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Allan-Herndon-Dudley syndrome(AHDS)

MedGen UID:
208645
Concept ID:
C0795889
Disease or Syndrome
Synonyms: AHDS; Allan-Herndon syndrome; MCT8 (SLC16A2)-Specific Thyroid Hormone Cell Transporter Deficiency; MCT8-Specific Thyroid Hormone Cell-Membrane Transporter Deficiency; Mental retardation and muscular atrophy; Monocarboxylate transporter-8 deficiency; T3 resisitence; T3 RESISTANCE; TRIIODOTHYRONINE RESISTANCE; Triiodothyronine resistence; X-linked mental retardation with hypotonia
Modes of inheritance:
X-linked dominant inheritance
MedGen UID:
376232
Concept ID:
C1847879
Finding
Source: HPO
A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation.
SNOMED CT: Monocarboxylate transporter 8 deficiency (702327009); Allan-Herndon-Dudley syndrome (702327009); Allan-Herndon syndrome (702327009)
 
Gene (location): SLC16A2 (Xq13.2)
OMIM®: 300523
Orphanet: ORPHA59

Disease characteristics

MCT8-specific thyroid hormone cell-membrane transporter deficiency is characterized by severe cognitive deficiency, infantile hypotonia, diminished muscle mass and generalized muscle weakness, progressive spastic quadriplegia, joint contractures, and dystonic and/or athetoid movement with characteristic paroxysms or kinesigenic dyskinesias. Seizures occur in about 25% of cases. Most affected males never sit or walk independently or lose these abilities over time; most never speak or have severely dysarthric speech. Brain MRI obtained in the first few years of life shows transient delayed myelination, which improves by age four years. Although psychomotor findings observed in affected males do not occur in heterozygous females, the latter often have thyroid test abnormalities intermediate between affected and normal individuals. [from GeneReviews]
Authors:
Alexandra M Dumitrescu  |  Jiao Fu  |  Melissa A Dempsey, et. al.   view full author information

Additional description

From GHR
Allan-Herndon-Dudley syndrome is a rare disorder of brain development that causes moderate to severe intellectual disability and problems with movement. This condition, which occurs exclusively in males, disrupts development from before birth. Although affected males have impaired speech and a limited ability to communicate, they seem to enjoy interaction with other people.Most children with Allan-Herndon-Dudley syndrome have weak muscle tone (hypotonia) and underdevelopment of many muscles (muscle hypoplasia). As they get older, they usually develop joint deformities called contractures, which restrict the movement of certain joints. Abnormal muscle stiffness (spasticity), muscle weakness, and involuntary movements of the arms and legs also limit mobility. As a result, many people with Allan-Herndon-Dudley syndrome are unable to walk independently and become wheelchair-bound by adulthood.  http://ghr.nlm.nih.gov/condition/allan-herndon-dudley-syndrome

Clinical features

Diabetes mellitus type 1
MedGen UID:
41522
Concept ID:
C0011854
Disease or Syndrome
The type of diabetes mellitus called IDDM is a disorder of glucose homeostasis that is characterized by susceptibility to ketoacidosis in the absence of insulin therapy. It is a genetically heterogeneous autoimmune disease affecting about 0.3% of Caucasian populations (Todd, 1990). Genetic studies of IDDM have focused on the identification of loci associated with increased susceptibility to this multifactorial phenotype. The classical phenotype of diabetes mellitus is polydipsia, polyphagia, and polyuria which result from hyperglycemia-induced osmotic diuresis and secondary thirst. These derangements result in long-term complications that affect the eyes, kidneys, nerves, and blood vessels.
Hypothyroidism
MedGen UID:
6991
Concept ID:
C0020676
Disease or Syndrome
Your thyroid is a butterfly-shaped gland in your neck, just above your collarbone. It is one of your endocrine glands, which make hormones. Thyroid hormones control the rate of many activities in your body. These include how fast you burn calories and how fast your heart beats. All of these activities are your body's metabolism. If your thyroid gland is not active enough, it does not make enough thyroid hormone to meet your body's needs. This condition is hypothyroidism. Hypothyroidism is more common in women, people with other thyroid problems, and those over 60 years old. Hashimoto's disease, an autoimmune disorder, is the most common cause. Other causes include thyroid nodules, thyroiditis, congenital hypothyroidism, surgical removal of part or all of the thyroid, radiation treatment of the thyroid, and some medicines. The symptoms can vary from person to person. They may include. -Fatigue. -Weight gain. -A puffy face. -Cold intolerance. -Joint and muscle pain. -Constipation. -Dry skin. -Dry, thinning hair. -Decreased sweating. -Heavy or irregular menstrual periods and fertility problems. -Depression. -Slowed heart rate. To diagnose hypothyroidism, your doctor will look at your symptoms and blood tests. Treatment is with synthetic thyroid hormone, taken every day. NIH: National Institute of Diabetes and Digestive and Kidney Diseases.
Raised TSH level
MedGen UID:
108325
Concept ID:
C0586553
Finding
Overproduction of thyroid-stimulating hormone (TSH) by the anterior pituitary gland.
Ptosis of eyelid
MedGen UID:
2287
Concept ID:
C0005745
Anatomical Abnormality
The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).
Exophthalmos
MedGen UID:
41917
Concept ID:
C0015300
Disease or Syndrome
An eye that is protruding anterior to the plane of the face to a greater extent than is typical.
Rotary nystagmus
MedGen UID:
116106
Concept ID:
C0240595
Disease or Syndrome
A form of nystagmus in which the eyeball makes rotary motions around the axis.
Abnormal conjugate eye movement
MedGen UID:
337198
Concept ID:
C1845274
Finding
Any deviation from the normal motor coordination of the eyes that allows for bilateral fixation on a single object.
Flatfoot
MedGen UID:
42034
Concept ID:
C0016202
Anatomical Abnormality
A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced.
Hallux valgus
MedGen UID:
5416
Concept ID:
C0018536
Anatomical Abnormality
Lateral deviation of the great toe (i.e., in the direction of the little toe).
Camptodactyly of finger
MedGen UID:
98041
Concept ID:
C0409348
Finding
The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers cannot be extended to 180 degrees by either active or passive extension.
Single transverse palmar crease
MedGen UID:
96108
Concept ID:
C0424731
Finding
The distal and proximal transverse palmar creases are merged into a single transverse palmar crease.
Macrotia
MedGen UID:
488785
Concept ID:
C0152421
Congenital Abnormality
Median longitudinal ear length greater than two standard deviations above the mean and median ear width greater than two standard deviations above the mean (objective); or, apparent increase in length and width of the pinna (subjective).
Antihelix structure
MedGen UID:
65353
Concept ID:
C0229308
Body Part, Organ, or Organ Component
The presence of a supernumerary, i.e. third, crus of the helix (FMA:61024) in the helix, arising at or above the normal bifurcation of the antihelix.
Prominent antihelix
MedGen UID:
335147
Concept ID:
C1845272
Finding
The presence of an abnormally prominent antihelix.
Cerebellar ataxia
MedGen UID:
849
Concept ID:
C0007758
Sign or Symptom
Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- oder overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).
Clonus
MedGen UID:
40341
Concept ID:
C0009024
Sign or Symptom
A series of rhythmic and involuntary muscle contractions (at a frequency of about 5 to 7 Hz) that occur in response to an abruptly applied and sustained stretch.
Dribbling from mouth
MedGen UID:
8484
Concept ID:
C0013132
Sign or Symptom
Habitual flow of saliva out of the mouth.
Dysarthria
MedGen UID:
8510
Concept ID:
C0013362
Mental or Behavioral Dysfunction
Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.
Leukodystrophy
MedGen UID:
6070
Concept ID:
C0023520
Disease or Syndrome
The leukodystrophies are rare diseases that affect the cells of the brain. Specifically, the diseases affect the myelin sheath, the material that surrounds and protects nerve cells. Damage to this sheath slows down or blocks messages between the brain and the rest of the body. This leads to problems with. - Movement. - Speaking. - Vision. - Hearing . - Mental and physical development . Most of the leukodystrophies are genetic. They usually appear during infancy or childhood. They can be hard to detect early because children seem healthy at first. However, symptoms gradually get worse over time. . There are no cures for any of the leukodystrophies. Medicines, speech therapy and physical therapy might help with symptoms. Researchers are testing bone marrow transplantation as a treatment for some of the leukodystrophies. . NIH: National Institute of Neurological Disorders and Stroke .
Microcephalus
MedGen UID:
44422
Concept ID:
C0025958
Congenital Abnormality
Occipito-frontal (head) circumference (OFC) less than -3 standard deviations compared to appropriate, age matched, normal standards (Ross JJ, Frias JL 1977, PMID:9683597). Alternatively, decreased size of the cranium.
Babinski sign
MedGen UID:
19708
Concept ID:
C0034935
Finding
An abnormal reflex consisting of dorsiflexion of the great toe and abduction of the other toes in response to cutaneous stimulation of the plantar surface of the foot.
Intellectual disability, severe
MedGen UID:
48638
Concept ID:
C0036857
Mental or Behavioral Dysfunction
Severe mental retardation is defined as an intelligence quotient (IQ) in the range of 20-34.
Spastic paraplegia
MedGen UID:
20882
Concept ID:
C0037772
Disease or Syndrome
Spasticity and weakness of the leg and hip muscles.
Neurological speech impairment
MedGen UID:
11531
Concept ID:
C0037822
Disease or Syndrome
A term referring to disorders characterized by the disruption of normal speech. It includes stuttering, lisps, dysarthria and voice disorders.
Hyperreflexia
MedGen UID:
57738
Concept ID:
C0151889
Finding
Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.
Cerebral calcification
MedGen UID:
124360
Concept ID:
C0270685
Finding
The presence of calcium deposition within brain structures.
Cognitive impairment
MedGen UID:
90932
Concept ID:
C0338656
Mental or Behavioral Dysfunction
a condition where a person has problems with the ability to think and learn
Spastic tetraplegia
MedGen UID:
98433
Concept ID:
C0426970
Disease or Syndrome
Spastic paralysis affecting all four limbs.
Abnormal coordination
MedGen UID:
141714
Concept ID:
C0520966
Sign or Symptom
Inability to walk
MedGen UID:
107860
Concept ID:
C0560046
Finding
Incapability to ambulate.
Gait disturbance
MedGen UID:
107895
Concept ID:
C0575081
Finding
The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease.
Raised TSH level
MedGen UID:
108325
Concept ID:
C0586553
Finding
Overproduction of thyroid-stimulating hormone (TSH) by the anterior pituitary gland.
Severe global developmental delay
MedGen UID:
332436
Concept ID:
C1837397
Finding
A severe delay in the achievement of motor or mental milestones in the domains of development of a child.
Involuntary writhing movements
MedGen UID:
375616
Concept ID:
C1845265
Finding
Intellectual disability, progressive
MedGen UID:
337397
Concept ID:
C1846149
Finding
The term progressive intellectual disability should be used if intelligence decreases/deteriorates over time.
Irritability
MedGen UID:
397841
Concept ID:
C2700617
Mental Process
A disorder characterized by an abnormal responsiveness to stimuli or physiological arousal; may be in response to pain, fright, a drug, an emotional situation or a medical condition.
Delayed CNS myelination
MedGen UID:
867393
Concept ID:
C4021758
Anatomical Abnormality
Delayed myelination in the central nervous system.
Feeding difficulties in infancy
MedGen UID:
436211
Concept ID:
C2674608
Finding
Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention.
Contracture
MedGen UID:
3227
Concept ID:
C0009917
Acquired Abnormality
A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.
Spastic paraplegia
MedGen UID:
20882
Concept ID:
C0037772
Disease or Syndrome
Spasticity and weakness of the leg and hip muscles.
Denervation atrophy of muscle
MedGen UID:
78748
Concept ID:
C0270948
Pathologic Function
The presence of skeletal muscular atrophy (which is also known as amyotrophy).
Camptodactyly of finger
MedGen UID:
98041
Concept ID:
C0409348
Finding
The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers cannot be extended to 180 degrees by either active or passive extension.
Spastic tetraplegia
MedGen UID:
98433
Concept ID:
C0426970
Disease or Syndrome
Spastic paralysis affecting all four limbs.
Generalized amyotrophy
MedGen UID:
234650
Concept ID:
C1389113
Finding
Generalized (diffuse, unlocalized) amyotrophy (muscle atrophy) affecting multiple muscles.
Neonatal hypotonia
MedGen UID:
412209
Concept ID:
C2267233
Disease or Syndrome
Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period.
Diabetes mellitus type 1
MedGen UID:
41522
Concept ID:
C0011854
Disease or Syndrome
The type of diabetes mellitus called IDDM is a disorder of glucose homeostasis that is characterized by susceptibility to ketoacidosis in the absence of insulin therapy. It is a genetically heterogeneous autoimmune disease affecting about 0.3% of Caucasian populations (Todd, 1990). Genetic studies of IDDM have focused on the identification of loci associated with increased susceptibility to this multifactorial phenotype. The classical phenotype of diabetes mellitus is polydipsia, polyphagia, and polyuria which result from hyperglycemia-induced osmotic diuresis and secondary thirst. These derangements result in long-term complications that affect the eyes, kidneys, nerves, and blood vessels.
Contracture
MedGen UID:
3227
Concept ID:
C0009917
Acquired Abnormality
A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.
Hallux valgus
MedGen UID:
5416
Concept ID:
C0018536
Anatomical Abnormality
Lateral deviation of the great toe (i.e., in the direction of the little toe).
Microcephalus
MedGen UID:
44422
Concept ID:
C0025958
Congenital Abnormality
Occipito-frontal (head) circumference (OFC) less than -3 standard deviations compared to appropriate, age matched, normal standards (Ross JJ, Frias JL 1977, PMID:9683597). Alternatively, decreased size of the cranium.
Cerebral calcification
MedGen UID:
124360
Concept ID:
C0270685
Finding
The presence of calcium deposition within brain structures.
Camptodactyly of finger
MedGen UID:
98041
Concept ID:
C0409348
Finding
The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers cannot be extended to 180 degrees by either active or passive extension.
Scoliosis
MedGen UID:
195976
Concept ID:
C0700208
Finding
The presence of an abnormal lateral curvature of the spine.
Decreased joint mobility
MedGen UID:
341696
Concept ID:
C1857108
Finding
A reduction in the freedom of movement of one or more joints.
Pectus excavatum
MedGen UID:
781174
Concept ID:
C2051831
Finding
A defect of the chest wall characterized by a depression of the sternum, giving the chest (\
Cheekbone underdevelopment
MedGen UID:
866886
Concept ID:
C4021242
Anatomical Abnormality
Underdevelopment of the zygomatic bone [UBERON_0001683]. That is, a reduction in size of the zygomatic bone, including the zygomatic process of the temporal bone of the skull, which forms part of the zygomatic arch.
Abnormality of the rib cage
MedGen UID:
871275
Concept ID:
C4025763
Anatomical Abnormality
A morphological anomaly of the rib cage.
Dribbling from mouth
MedGen UID:
8484
Concept ID:
C0013132
Sign or Symptom
Habitual flow of saliva out of the mouth.
Exophthalmos
MedGen UID:
41917
Concept ID:
C0015300
Disease or Syndrome
An eye that is protruding anterior to the plane of the face to a greater extent than is typical.
Microcephalus
MedGen UID:
44422
Concept ID:
C0025958
Congenital Abnormality
Occipito-frontal (head) circumference (OFC) less than -3 standard deviations compared to appropriate, age matched, normal standards (Ross JJ, Frias JL 1977, PMID:9683597). Alternatively, decreased size of the cranium.
Open mouth
MedGen UID:
116104
Concept ID:
C0240379
Spatial Concept
A facial appearance characterized by a permanently or nearly permanently opened mouth.
Upslanted palpebral fissure
MedGen UID:
98390
Concept ID:
C0423109
Finding
The palpebral fissure inclination is more than two standard deviations above the mean for age (objective); or, the inclination of the palpebral fissure is greater than typical for age.
Narrow face
MedGen UID:
373334
Concept ID:
C1837463
Finding
Bizygomatic (upper face) and bigonial (lower face) width are both more than 2 standard deviations below the mean (objective); or, an apparent reduction in the width of the upper and lower face (subjective).
Narrow forehead
MedGen UID:
326956
Concept ID:
C1839758
Finding
Width of the forehead or distance between the frontotemporales is more than two standard deviations below the mean (objective); or apparently narrow intertemporal region (subjective).
Cheekbone underdevelopment
MedGen UID:
866886
Concept ID:
C4021242
Anatomical Abnormality
Underdevelopment of the zygomatic bone [UBERON_0001683]. That is, a reduction in size of the zygomatic bone, including the zygomatic process of the temporal bone of the skull, which forms part of the zygomatic arch.
Abnormality of the neck
MedGen UID:
871357
Concept ID:
C4025851
Anatomical Abnormality
An abnormality of the neck.
Contracture
MedGen UID:
3227
Concept ID:
C0009917
Acquired Abnormality
A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.
Camptodactyly of finger
MedGen UID:
98041
Concept ID:
C0409348
Finding
The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers cannot be extended to 180 degrees by either active or passive extension.
Single transverse palmar crease
MedGen UID:
96108
Concept ID:
C0424731
Finding
The distal and proximal transverse palmar creases are merged into a single transverse palmar crease.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAllan-Herndon-Dudley syndrome
Follow this link to review classifications for Allan-Herndon-Dudley syndrome in Orphanet.

Recent clinical studies

Etiology

Matheus MG, Lehman RK, Bonilha L, Holden KR
J Child Neurol 2015 Oct;30(12):1664-8. Epub 2015 Apr 21 doi: 10.1177/0883073815578524. [Epub ahead of print] PMID: 25900139
Kim JH, Kim YM, Yum MS, Choi JH, Lee BH, Kim GH, Yoo HW
Horm Res Paediatr 2015;83(4):288-92. Epub 2015 Apr 15 doi: 10.1159/000371466. [Epub ahead of print] PMID: 25896225
La Piana R, Vanasse M, Brais B, Bernard G
J Child Neurol 2015 Sep;30(10):1371-4. Epub 2014 Nov 7 doi: 10.1177/0883073814555189. [Epub ahead of print] PMID: 25380603
Kobayashi S, Onuma A, Inui T, Wakusawa K, Tanaka S, Shimojima K, Yamamoto T, Haginoya K
Pediatr Neurol 2014 Sep;51(3):414-6. Epub 2014 May 9 doi: 10.1016/j.pediatrneurol.2014.05.004. [Epub ahead of print] PMID: 25160547
Kersseboom S, Kremers GJ, Friesema EC, Visser WE, Klootwijk W, Peeters RP, Visser TJ
Mol Endocrinol 2013 May;27(5):801-13. Epub 2013 Apr 2 doi: 10.1210/me.2012-1356. [Epub ahead of print] PMID: 23550058

Diagnosis

Kim JH, Kim YM, Yum MS, Choi JH, Lee BH, Kim GH, Yoo HW
Horm Res Paediatr 2015;83(4):288-92. Epub 2015 Apr 15 doi: 10.1159/000371466. [Epub ahead of print] PMID: 25896225
Langley KG, Trau S, Bean LJ, Narravula A, Schrier Vergano SA
Am J Med Genet A 2015 May;167A(5):1117-20. Epub 2015 Mar 8 doi: 10.1002/ajmg.a.36970. [Epub ahead of print] PMID: 25755011
Rodrigues F, Grenha J, Ortez C, Nascimento A, Morte B, M-Belinchón M, Armstrong J, Colomer J
BMC Pediatr 2014 Oct 4;14:252. doi: 10.1186/1471-2431-14-252. [Epub ahead of print] PMID: 25284458Free PMC Article
Azzolini S, Nosadini M, Balzarin M, Sartori S, Suppiej A, Mardari R, Greggio NA, Toldo I
Brain Dev 2014 Sep;36(8):716-20. Epub 2013 Nov 19 doi: 10.1016/j.braindev.2013.10.009. [Epub ahead of print] PMID: 24268987
Boccone L, Dessì V, Meloni A, Loudianos G
Eur J Med Genet 2013 Apr;56(4):207-10. Epub 2013 Feb 16 doi: 10.1016/j.ejmg.2013.02.001. [Epub ahead of print] PMID: 23419639

Therapy

Ferrara AM, Liao XH, Ye H, Weiss RE, Dumitrescu AM, Refetoff S
Endocrinology 2015 Nov;156(11):3889-94. Epub 2015 Aug 31 doi: 10.1210/en.2015-1234. [Epub ahead of print] PMID: 26322373Free PMC Article
Krude H, Kühnen P, Biebermann H
Best Pract Res Clin Endocrinol Metab 2015 Jun;29(3):399-413. Epub 2015 Apr 26 doi: 10.1016/j.beem.2015.04.004. [Epub ahead of print] PMID: 26051299
Kersseboom S, Horn S, Visser WE, Chen J, Friesema EC, Vaurs-Barrière C, Peeters RP, Heuer H, Visser TJ
Mol Endocrinol 2014 Dec;28(12):1961-70. doi: 10.1210/me.2014-1135. PMID: 25389909
Verge CF, Konrad D, Cohen M, Di Cosmo C, Dumitrescu AM, Marcinkowski T, Hameed S, Hamilton J, Weiss RE, Refetoff S
J Clin Endocrinol Metab 2012 Dec;97(12):4515-23. Epub 2012 Sep 19 doi: 10.1210/jc.2012-2556. [Epub ahead of print] PMID: 22993035Free PMC Article
Zung A, Visser TJ, Uitterlinden AG, Rivadeneira F, Friesema EC
Eur J Endocrinol 2011 Nov;165(5):823-30. Epub 2011 Sep 6 doi: 10.1530/EJE-11-0358. [Epub ahead of print] PMID: 21896621

Prognosis

Matheus MG, Lehman RK, Bonilha L, Holden KR
J Child Neurol 2015 Oct;30(12):1664-8. Epub 2015 Apr 21 doi: 10.1177/0883073815578524. [Epub ahead of print] PMID: 25900139
La Piana R, Vanasse M, Brais B, Bernard G
J Child Neurol 2015 Sep;30(10):1371-4. Epub 2014 Nov 7 doi: 10.1177/0883073814555189. [Epub ahead of print] PMID: 25380603
Kobayashi S, Onuma A, Inui T, Wakusawa K, Tanaka S, Shimojima K, Yamamoto T, Haginoya K
Pediatr Neurol 2014 Sep;51(3):414-6. Epub 2014 May 9 doi: 10.1016/j.pediatrneurol.2014.05.004. [Epub ahead of print] PMID: 25160547
Zung A, Visser TJ, Uitterlinden AG, Rivadeneira F, Friesema EC
Eur J Endocrinol 2011 Nov;165(5):823-30. Epub 2011 Sep 6 doi: 10.1530/EJE-11-0358. [Epub ahead of print] PMID: 21896621
Verma S
Indian J Pediatr 2008 Apr;75(4):402-4. PMID: 18589880

Clinical prediction guides

Armour CM, Kersseboom S, Yoon G, Visser TJ
PLoS One 2015;10(10):e0139343. Epub 2015 Oct 1 doi: 10.1371/journal.pone.0139343. PMID: 26426690Free PMC Article
Matheus MG, Lehman RK, Bonilha L, Holden KR
J Child Neurol 2015 Oct;30(12):1664-8. Epub 2015 Apr 21 doi: 10.1177/0883073815578524. [Epub ahead of print] PMID: 25900139
Ramos HE
Endocr Dev 2014;26:108-17. Epub 2014 Aug 29 doi: 10.1159/000363158. [Epub ahead of print] PMID: 25231447
Wirth EK, Roth S, Blechschmidt C, Hölter SM, Becker L, Racz I, Zimmer A, Klopstock T, Gailus-Durner V, Fuchs H, Wurst W, Naumann T, Bräuer A, de Angelis MH, Köhrle J, Grüters A, Schweizer U
J Neurosci 2009 Jul 29;29(30):9439-49. doi: 10.1523/JNEUROSCI.6055-08.2009. PMID: 19641107
Frints SG, Lenzner S, Bauters M, Jensen LR, Van Esch H, des Portes V, Moog U, Macville MV, van Roozendaal K, Schrander-Stumpel CT, Tzschach A, Marynen P, Fryns JP, Hamel B, van Bokhoven H, Chelly J, Beldjord C, Turner G, Gecz J, Moraine C, Raynaud M, Ropers HH, Froyen G, Kuss AW
Eur J Hum Genet 2008 Sep;16(9):1029-37. Epub 2008 Apr 9 doi: 10.1038/ejhg.2008.66. [Epub ahead of print] PMID: 18398436

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