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Pitt-Hopkins syndrome(PTHS)

MedGen UID:
370910
Concept ID:
C1970431
Disease or Syndrome
Synonyms: ENCEPHALOPATHY, SEVERE EPILEPTIC, WITH AUTONOMIC DYSFUNCTION; MENTAL RETARDATION, SYNDROMAL, WITH INTERMITTENT HYPERVENTILATION; Mental retardation, wide mouth, distinctive facial features, and intermittent hyperventilation followed by apnea; PTHS
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, Orphanet
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Pitt-Hopkins syndrome (702344008); PTHS - Pitt-Hopkins syndrome (702344008)
 
Gene (location): TCF4 (18q21.2)
OMIM®: 610954
Orphanet: ORPHA2896

Disease characteristics

Excerpted from the GeneReview: Pitt-Hopkins Syndrome
Pitt-Hopkins syndrome (PTHS) is characterized by distinctive facial features which become more apparent with age (100%), developmental delay/intellectual disability (100%), and episodic hyperventilation and/or breath-holding while awake (55%-60%). Global developmental delays are significant and intellectual disability is moderate to severe: mean age of walking is four to six years; most affected individuals are nonverbal. Other common findings are behavioral issues, hand stereotypic movements, seizures (40%-50%), constipation, and severe myopia. [from GeneReviews]
Authors:
Holly H Ardinger  |  Holly I Welsh  |  Carol J Saunders   view full author information

Additional descriptions

From OMIM
The Pitt-Hopkins syndrome is characterized by mental retardation, wide mouth and distinctive facial features, and intermittent hyperventilation followed by apnea (Zweier et al., 2007). See also Pitt-Hopkins-like syndrome-1 (610042), caused by mutation in the CNTNAP2 gene (604569) on chromosome 7q35, and Pitt-Hopkins-like syndrome-2 (600565), caused by mutation in the NRXN1 gene (600565) on chromosome 2p16.3.  http://www.omim.org/entry/610954
From GHR
Pitt-Hopkins syndrome is a condition characterized by intellectual disability and developmental delay, breathing problems, recurrent seizures (epilepsy), and distinctive facial features.People with Pitt-Hopkins syndrome have moderate to severe intellectual disability. Most affected individuals have delayed development of mental and motor skills (psychomotor delay). They are delayed in learning to walk and developing fine motor skills such as picking up small items with their fingers. People with Pitt-Hopkins syndrome typically do not develop speech; some may learn to say a few words. Many affected individuals exhibit features of autistic spectrum disorders, which are characterized by impaired communication and socialization skills.Breathing problems in individuals with Pitt-Hopkins syndrome are characterized by episodes of rapid breathing (hyperventilation) followed by periods in which breathing slows or stops (apnea). These episodes can cause a lack of oxygen in the blood, leading to a bluish appearance of the skin or lips (cyanosis). In some cases, the lack of oxygen can cause loss of consciousness. Some older individuals with Pitt-Hopkins syndrome develop widened and rounded tips of the fingers and toes (clubbing) because of recurrent episodes of decreased oxygen in the blood. The breathing problems occur only when the person is awake and typically first appear in mid-childhood, but they can begin as early as infancy. Episodes of hyperventilation and apnea can be triggered by emotions such as excitement or anxiety or by extreme tiredness (fatigue).Epilepsy occurs in most people with Pitt-Hopkins syndrome and usually begins during childhood, although it can be present from birth.Individuals with Pitt-Hopkins syndrome have distinctive facial features that include thin eyebrows, sunken eyes, a prominent nose with a high nasal bridge, a pronounced double curve of the upper lip (Cupid's bow), a wide mouth with full lips, and widely spaced teeth. The ears are usually thick and cup-shaped.Children with Pitt-Hopkins syndrome typically have a happy, excitable demeanor with frequent smiling, laughter, and hand-flapping movements. However, they can also experience anxiety and behavioral problems.Other features of Pitt-Hopkins syndrome may include constipation and other gastrointestinal problems, an unusually small head (microcephaly), nearsightedness (myopia), eyes that do not look in the same direction (strabismus), short stature, and minor brain abnormalities. Affected individuals may also have small hands and feet, a single crease across the palms of the hands, flat feet (pes planus), or unusually fleshy pads at the tips of the fingers and toes. Males with Pitt-Hopkins syndrome may have undescended testes (cryptorchidism).  https://ghr.nlm.nih.gov/condition/pitt-hopkins-syndrome

Clinical features

Astigmatism
MedGen UID:
2473
Concept ID:
C0004106
Disease or Syndrome
Astigmatism (from the Greek 'a' meaning absence and 'stigma' meaning point) is a condition in which the parallel rays of light entering the eye through the refractive media are not focused on a single point. Both corneal and noncorneal factors contribute to refractive astigmatism. Corneal astigmatism is mainly the result of an aspheric anterior surface of the cornea, which can be measured readily by means of a keratometer; in a small fraction of cases (approximately 1 in 10) the effect is neutralized by the back surface. The curvature of the back surface of the cornea is not considered in most studies, because it is more difficult to measure; moreover, in the case of severe corneal astigmatism, there is evidence that both surfaces have the same configuration. Noncorneal factors are errors in the curvature of the 2 surfaces of the crystalline lens, irregularity in the refractive index of the lens, and an eccentric lens position. Since the cornea is the dominant component of the eye's refracting system, a highly astigmatic cornea is likely to result in a similarly astigmatic ocular refraction (summary by Clementi et al., 1998).
Deeply set eye
MedGen UID:
8638
Concept ID:
C0014306
Disease or Syndrome
An eye that is more deeply recessed into the plane of the face than is typical.
Myopia
MedGen UID:
44558
Concept ID:
C0027092
Disease or Syndrome
An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry.
Strabismus
MedGen UID:
21337
Concept ID:
C0038379
Disease or Syndrome
Strabismus (also known as squint) is a condition in which the eyes are not properly aligned with each other.
Cryptorchidism, unilateral or bilateral
MedGen UID:
8192
Concept ID:
C0010417
Congenital Abnormality
Cryptorchidism, or failure of testicular descent, is a common human congenital abnormality with a multifactorial etiology that likely reflects the involvement of endocrine, environmental, and hereditary factors. Cryptorchidism can result in infertility and increases risk for testicular tumors. Testicular descent from abdomen to scrotum occurs in 2 distinct phases: the transabdominal phase and the inguinoscrotal phase (summary by Gorlov et al., 2002).
Micropenis
MedGen UID:
78603
Concept ID:
C0266435
Congenital Abnormality
Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm.
Pes planus
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.
Clubbing
MedGen UID:
57692
Concept ID:
C0149651
Sign or Symptom
Broadening of the soft tissues (non-edematous swelling of soft tissues) of the digital tips in all dimensions associated with an increased longitudinal and lateral curvature of the nails.
Clinodactyly
MedGen UID:
120550
Concept ID:
C0265610
Congenital Abnormality
An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe).
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.
Tapered finger
MedGen UID:
98098
Concept ID:
C0426886
Finding
The gradual reduction in girth of the digit from proximal to distal.
Narrow foot
MedGen UID:
108395
Concept ID:
C0576227
Finding
A foot for which the measured width is below the 5th centile for age; or, a foot that appears disproportionately narrow for its length.
Constipation
MedGen UID:
1101
Concept ID:
C0009806
Sign or Symptom
Constipation means that a person has three or fewer bowel movements in a week. The stool can be hard and dry. Sometimes it is painful to pass. At one time or another, almost everyone gets constipated. In most cases, it lasts a short time and is not serious. . There are many things you can do to prevent constipation. They include - Eating more fruits, vegetables and grains, which are high in fiber. - Drinking plenty of water and other liquids. - Getting enough exercise. - Taking time to have a bowel movement when you need to. - Using laxatives only if your doctor says you should. - Asking your doctor if medicines you take may cause constipation. . It's not important that you have a bowel movement every day. If your bowel habits change, however, check with your doctor. . NIH: National Institute of Diabetes and Digestive and Kidney Diseases.
Gastroesophageal reflux disease
MedGen UID:
6553
Concept ID:
C0017168
Disease or Syndrome
Gastroesophageal reflux (GER) is characterized by the retrograde movement of stomach contents into the esophagus. In its most severe form, GER results in extensive tissue damage caused by acid reflux. In adolescents and adults, and even infrequently in children, chronic GER is associated with the risk of developing Barrett metaplasia (614266), a premalignant lesion of the esophageal mucosa (Hu et al., 2000). In turn, Barrett metaplasia is correlated with the development of adenocarcinoma of the esophagus (see 614266), estimated as the fifth most prevalent neoplasia in the Western world (Lagergren et al., 1999).
Ear malformation
MedGen UID:
75618
Concept ID:
C0266589
Congenital Abnormality
An abnormality of the ear.
Aggressive behavior
MedGen UID:
1375
Concept ID:
C0001807
Individual Behavior
Aggressive behavior can denote verbal aggression, physical aggression against objects, physical aggression against people, and may also include aggression towards oneself.
Dysautonomia
MedGen UID:
8511
Concept ID:
C0013363
Disease or Syndrome
Dysfunction of the autonomic nervous system.
Seizure Disorders
MedGen UID:
4506
Concept ID:
C0014544
Disease or Syndrome
Epilepsy is a brain disorder that causes people to have recurring seizures. The seizures happen when clusters of nerve cells, or neurons, in the brain send out the wrong signals. People may have strange sensations and emotions or behave strangely. They may have violent muscle spasms or lose consciousness. Epilepsy has many possible causes, including illness, brain injury, and abnormal brain development. In many cases, the cause is unknown. Doctors use brain scans and other tests to diagnose epilepsy. It is important to start treatment right away. There is no cure for epilepsy, but medicines can control seizures for most people. When medicines are not working well, surgery or implanted devices such as vagus nerve stimulators may help. Special diets can help some children with epilepsy. NIH: National Institute of Neurological Disorders and Stroke.
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.
Unspecified encephalopathy
MedGen UID:
39314
Concept ID:
C0085584
Disease or Syndrome
Encephalopathy is a term that means brain disease, damage, or malfunction. In general, encephalopathy is manifested by an altered mental state.
Hypoplasia of the corpus callosum
MedGen UID:
138005
Concept ID:
C0344482
Congenital Abnormality
Underdevelopment of the corpus callosum.
Microcephaly
MedGen UID:
473122
Concept ID:
C0424688
Finding
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.
Incoordination
MedGen UID:
141714
Concept ID:
C0520966
Sign or Symptom
Gait ataxia
MedGen UID:
155642
Concept ID:
C0751837
Sign or Symptom
Impairment of the ability to coordinate the movements required for normal ambulation (WALKING) which may result from impairments of motor function or sensory feedback. This condition may be associated with BRAIN DISEASES (including CEREBELLAR DISEASES and BASAL GANGLIA DISEASES); SPINAL CORD DISEASES; or PERIPHERAL NERVOUS SYSTEM DISEASES.
Intellectual disability, progressive
MedGen UID:
337397
Concept ID:
C1846149
Finding
The term progressive intellectual disability should be used if intelligence decreases/deteriorates over time.
Absent speech
MedGen UID:
340737
Concept ID:
C1854882
Finding
Complete lack of development of speech and language abilities.
No development of motor milestones
MedGen UID:
892432
Concept ID:
C4020874
Finding
A type of Developmental delay characterized by a delay in acquiring motor skills.
Intermittent hyperventilation
MedGen UID:
321811
Concept ID:
C1828017
Finding
Episodic hyperventilation.
Cryptorchidism, unilateral or bilateral
MedGen UID:
8192
Concept ID:
C0010417
Congenital Abnormality
Cryptorchidism, or failure of testicular descent, is a common human congenital abnormality with a multifactorial etiology that likely reflects the involvement of endocrine, environmental, and hereditary factors. Cryptorchidism can result in infertility and increases risk for testicular tumors. Testicular descent from abdomen to scrotum occurs in 2 distinct phases: the transabdominal phase and the inguinoscrotal phase (summary by Gorlov et al., 2002).
Micropenis
MedGen UID:
78603
Concept ID:
C0266435
Congenital Abnormality
Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm.
Muscular hypotonia
MedGen UID:
10133
Concept ID:
C0026827
Finding
Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is characterized by a diminished resistance to passive stretching.
Clubbing
MedGen UID:
57692
Concept ID:
C0149651
Sign or Symptom
Broadening of the soft tissues (non-edematous swelling of soft tissues) of the digital tips in all dimensions associated with an increased longitudinal and lateral curvature of the nails.
Clinodactyly
MedGen UID:
120550
Concept ID:
C0265610
Congenital Abnormality
An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe).
Microcephaly
MedGen UID:
473122
Concept ID:
C0424688
Finding
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.
Tapered finger
MedGen UID:
98098
Concept ID:
C0426886
Finding
The gradual reduction in girth of the digit from proximal to distal.
Short neck
MedGen UID:
99267
Concept ID:
C0521525
Finding
Diminished length of the neck.
Deeply set eye
MedGen UID:
8638
Concept ID:
C0014306
Disease or Syndrome
An eye that is more deeply recessed into the plane of the face than is typical.
Open mouth
MedGen UID:
116104
Concept ID:
C0240379
Finding
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.
Microcephaly
MedGen UID:
473122
Concept ID:
C0424688
Finding
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.
Short neck
MedGen UID:
99267
Concept ID:
C0521525
Finding
Diminished length of the neck.
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).
Widely spaced teeth
MedGen UID:
337093
Concept ID:
C1844813
Finding
Increased spaces (diastemata) between most of the teeth in the same dental arch.
Coarse facial features
MedGen UID:
335284
Concept ID:
C1845847
Finding
Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues.
Wide nasal bridge
MedGen UID:
341441
Concept ID:
C1849367
Finding
Increased breadth of the nasal bridge (and with it, the nasal root).
Short philtrum
MedGen UID:
350006
Concept ID:
C1861324
Finding
Distance between nasal base and midline upper lip vermilion border more than 2 SD below the mean. Alternatively, an apparently decreased distance between nasal base and midline upper lip vermilion border.
Chubby cheeks
MedGen UID:
412606
Concept ID:
C2748653
Finding
Increased prominence or roundness of soft tissues between zygomata and mandible.
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  
  • CROGVPitt-Hopkins syndrome
Follow this link to review classifications for Pitt-Hopkins syndrome in Orphanet.

Recent clinical studies

Etiology

de Winter CF, Baas M, Bijlsma EK, van Heukelingen J, Routledge S, Hennekam RC
Orphanet J Rare Dis 2016 Apr 12;11:37. doi: 10.1186/s13023-016-0422-2. PMID: 27072915Free PMC Article
Seltzer LE, Paciorkowski AR
Am J Med Genet C Semin Med Genet 2014 Jun;166C(2):140-55. Epub 2014 May 16 doi: 10.1002/ajmg.c.31400. PMID: 24839169
Sweatt JD
Exp Mol Med 2013 May 3;45:e21. doi: 10.1038/emm.2013.32. PMID: 23640545Free PMC Article
Van Balkom ID, Vuijk PJ, Franssens M, Hoek HW, Hennekam RC
Dev Med Child Neurol 2012 Oct;54(10):925-31. Epub 2012 Jun 19 doi: 10.1111/j.1469-8749.2012.04339.x. PMID: 22712893
Blake DJ, Forrest M, Chapman RM, Tinsley CL, O'Donovan MC, Owen MJ
Schizophr Bull 2010 May;36(3):443-7. Epub 2010 Apr 26 doi: 10.1093/schbul/sbq035. PMID: 20421335Free PMC Article

Diagnosis

de Winter CF, Baas M, Bijlsma EK, van Heukelingen J, Routledge S, Hennekam RC
Orphanet J Rare Dis 2016 Apr 12;11:37. doi: 10.1186/s13023-016-0422-2. PMID: 27072915Free PMC Article
Sweatt JD
Exp Mol Med 2013 May 3;45:e21. doi: 10.1038/emm.2013.32. PMID: 23640545Free PMC Article
Kousoulidou L, Tanteles G, Moutafi M, Sismani C, Patsalis PC, Anastasiadou V
Eur J Med Genet 2013 Jun;56(6):314-8. Epub 2013 Mar 23 doi: 10.1016/j.ejmg.2013.03.005. PMID: 23528641
Inati A, Abbas HA, Korjian S, Daaboul Y, Harajeily M, Saab R
J Child Neurol 2013 Dec;28(12):1698-701. Epub 2012 Dec 17 doi: 10.1177/0883073812468054. PMID: 23248353
Ghosh PS, Friedman NR, Ghosh D
J Child Neurol 2012 Dec;27(12):1602-6. Epub 2012 Feb 28 doi: 10.1177/0883073812437242. PMID: 22378661

Therapy

Gaffney C, McNally P
Am J Med Genet A 2015 Jun;167(6):1423. Epub 2015 Apr 21 doi: 10.1002/ajmg.a.37034. PMID: 25900839
Cantarín-Extremera V, González-Gutiérrez-Solana L, Ramírez-Orellana M, López-Marín L, Duat-Rodríguez A, Ruíz-Falcó-Rojas ML
Pediatr Neurol 2012 Nov;47(5):373-4. doi: 10.1016/j.pediatrneurol.2012.08.006. PMID: 23044022
Verhulst SL, De Dooy J, Ramet J, Bockaert N, Van Coster R, Ceulemans B, De Backer W
Am J Med Genet A 2012 Apr;158A(4):932-4. Epub 2012 Mar 9 doi: 10.1002/ajmg.a.35247. PMID: 22407847
Maini I, Cantalupo G, Turco EC, De Paolis F, Magnani C, Parrino L, Terzano MG, Pisani F
J Child Neurol 2012 Dec;27(12):1585-8. Epub 2012 Feb 28 doi: 10.1177/0883073811435917. PMID: 22378662

Prognosis

Kharbanda M, Kannike K, Lampe A, Berg J, Timmusk T, Sepp M
Eur J Med Genet 2016 Jun;59(6-7):310-4. Epub 2016 Apr 28 doi: 10.1016/j.ejmg.2016.04.003. PMID: 27132474
Cody JD, Sebold C, Heard P, Carter E, Soileau B, Hasi-Zogaj M, Hill A, Rupert D, Perry B, O'Donnell L, Gelfond J, Lancaster J, Fox PT, Hale DE
Am J Med Genet C Semin Med Genet 2015 Sep;169(3):265-80. Epub 2015 Aug 3 doi: 10.1002/ajmg.c.31446. PMID: 26235940
Rossi M, Labalme A, Cordier MP, Till M, Blanchard G, Dubois R, Guibaud L, Heissat S, Javouhey E, Lachaux A, Mure PY, Ville D, Edery P, Sanlaville D
Am J Med Genet A 2012 Dec;158A(12):3174-81. Epub 2012 Nov 19 doi: 10.1002/ajmg.a.35588. PMID: 23165966
Van Balkom ID, Vuijk PJ, Franssens M, Hoek HW, Hennekam RC
Dev Med Child Neurol 2012 Oct;54(10):925-31. Epub 2012 Jun 19 doi: 10.1111/j.1469-8749.2012.04339.x. PMID: 22712893
Hasi M, Soileau B, Sebold C, Hill A, Hale DE, O'Donnell L, Cody JD
Hum Genet 2011 Dec;130(6):777-87. Epub 2011 Jun 14 doi: 10.1007/s00439-011-1020-y. PMID: 21671075Free PMC Article

Clinical prediction guides

Kharbanda M, Kannike K, Lampe A, Berg J, Timmusk T, Sepp M
Eur J Med Genet 2016 Jun;59(6-7):310-4. Epub 2016 Apr 28 doi: 10.1016/j.ejmg.2016.04.003. PMID: 27132474
Marangi G, Ricciardi S, Orteschi D, Tenconi R, Monica MD, Scarano G, Battaglia D, Lettori D, Vasco G, Zollino M
Am J Med Genet A 2012 Jul;158A(7):1604-11. Epub 2012 Jun 7 doi: 10.1002/ajmg.a.35419. PMID: 22678594
Whalen S, Héron D, Gaillon T, Moldovan O, Rossi M, Devillard F, Giuliano F, Soares G, Mathieu-Dramard M, Afenjar A, Charles P, Mignot C, Burglen L, Van Maldergem L, Piard J, Aftimos S, Mancini G, Dias P, Philip N, Goldenberg A, Le Merrer M, Rio M, Josifova D, Van Hagen JM, Lacombe D, Edery P, Dupuis-Girod S, Putoux A, Sanlaville D, Fischer R, Drévillon L, Briand-Suleau A, Metay C, Goossens M, Amiel J, Jacquette A, Giurgea I
Hum Mutat 2012 Jan;33(1):64-72. Epub 2011 Nov 23 doi: 10.1002/humu.21639. PMID: 22045651
Lehalle D, Williams C, Siu VM, Clayton-Smith J
Am J Med Genet A 2011 Jul;155A(7):1685-9. Epub 2011 Jun 10 doi: 10.1002/ajmg.a.34055. PMID: 21671383
Giurgea I, Missirian C, Cacciagli P, Whalen S, Fredriksen T, Gaillon T, Rankin J, Mathieu-Dramard M, Morin G, Martin-Coignard D, Dubourg C, Chabrol B, Arfi J, Giuliano F, Claude Lambert J, Philip N, Sarda P, Villard L, Goossens M, Moncla A
Hum Mutat 2008 Nov;29(11):E242-51. doi: 10.1002/humu.20859. PMID: 18781613

Recent systematic reviews

Navarrete K, Pedroso I, De Jong S, Stefansson H, Steinberg S, Stefansson K, Ophoff RA, Schalkwyk LC, Collier DA
Am J Med Genet B Neuropsychiatr Genet 2013 Jan;162B(1):1-16. Epub 2012 Nov 5 doi: 10.1002/ajmg.b.32109. PMID: 23129290
Rossi M, Labalme A, Cordier MP, Till M, Blanchard G, Dubois R, Guibaud L, Heissat S, Javouhey E, Lachaux A, Mure PY, Ville D, Edery P, Sanlaville D
Am J Med Genet A 2012 Dec;158A(12):3174-81. Epub 2012 Nov 19 doi: 10.1002/ajmg.a.35588. PMID: 23165966

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