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Stüve-Wiedemann syndrome(SJS2; STWS)

MedGen UID:
167109
Concept ID:
C0796176
Disease or Syndrome
Synonyms: Neonatal Schwartz-Jampel syndrome type 2; Schwartz-Jampel syndrome neonatal; Schwartz-Jampel syndrome type 2; Stuve-Wiedemann syndrome; Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Gene (location): LIFR (5p13.1)
 
Monarch Initiative: MONDO:0011108
OMIM®: 601559
Orphanet: ORPHA3206

Definition

Stuve-Wiedemann syndrome is an autosomal recessive disorder characterized by bowing of the long bones and other skeletal anomalies, episodic hyperthermia, and respiratory and feeding distress usually resulting in early death (Dagoneau et al., 2004). See also 'classic' Schwartz-Jampel syndrome type 1 (SJS1; 255800), a phenotypically similar but genetically distinct disorder caused by mutation in the HSPG2 gene (142461) on chromosome 1p36. [from OMIM]

Additional description

From MedlinePlus Genetics
Stüve-Wiedemann syndrome is a severe condition characterized by bone abnormalities and dysfunction of the autonomic nervous system, which controls involuntary body processes such as the regulation of breathing rate and body temperature. The condition is apparent from birth, and its key features include abnormal curvature (bowing) of the long bones in the legs, difficulty feeding and swallowing, and episodes of dangerously high body temperature (hyperthermia).\n\nIn addition to bowed legs, affected infants can have bowed arms, permanently bent fingers and toes (camptodactyly), and joint deformities (contractures) in the elbows and knees that restrict their movement. Other features include abnormalities of the pelvic bones (the ilia) and reduced bone mineral density (osteopenia).\n\nIn infants with Stüve-Wiedemann syndrome, dysfunction of the autonomic nervous system typically leads to difficulty feeding and swallowing, breathing problems, and episodes of hyperthermia. Affected infants may also sweat excessively, even when the body temperature is not elevated, or have a reduced ability to feel pain. Many babies with this condition do not survive past infancy because of the problems regulating breathing and body temperature; however, some people with Stüve-Wiedemann syndrome live into adolescence or later.\n\nProblems with breathing and swallowing usually improve in affected children who survive infancy; however, they still have difficulty regulating body temperature. In addition, the leg bowing worsens, and children with Stüve-Wiedemann syndrome may develop prominent joints, an abnormal curvature of the spine (scoliosis), and spontaneous bone fractures. Some affected individuals have a smooth tongue that lacks the bumps that house taste buds (fungiform papillae). Affected children may also lose certain reflexes, particularly the reflex to blink when something touches the eye (corneal reflex) and the knee-jerk reflex (patellar reflex).\n\nAnother condition once known as Schwartz-Jampel syndrome type 2 is now considered to be part of Stüve-Wiedemann syndrome. Researchers have recommended that the designation Schwartz-Jampel syndrome type 2 no longer be used.  https://medlineplus.gov/genetics/condition/stuve-wiedemann-syndrome

Clinical features

From HPO
Talipes valgus
MedGen UID:
57757
Concept ID:
C0152236
Congenital Abnormality
Outward turning of the heel, resulting in clubfoot with the person walking on the inner part of the foot.
Ulnar deviation of finger
MedGen UID:
68543
Concept ID:
C0231679
Finding
Elbow flexion contracture
MedGen UID:
98367
Concept ID:
C0409338
Acquired Abnormality
Knee flexion contracture
MedGen UID:
98042
Concept ID:
C0409355
Finding
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.
Absent patellar reflexes
MedGen UID:
643630
Concept ID:
C0558844
Finding
Short phalanx of finger
MedGen UID:
163753
Concept ID:
C0877165
Finding
Short (hypoplastic) phalanx of finger, affecting one or more phalanges.
Talipes
MedGen UID:
220976
Concept ID:
C1301937
Congenital Abnormality
A deformity of foot and ankle that has different subtypes that are talipes equinovarus, talipes equinovalgus, talipes calcaneovarus and talipes calcaneovalgus.
Flexion contracture of toe
MedGen UID:
237248
Concept ID:
C1406835
Finding
One or more bent (flexed) toe joints that cannot be straightened actively or passively.
Metaphyseal rarefaction
MedGen UID:
371259
Concept ID:
C1832146
Finding
Reduction in density of metaphyseal bony tissue.
Tibial bowing
MedGen UID:
332360
Concept ID:
C1837081
Finding
A bending or abnormal curvature of the tibia.
Flared metaphysis
MedGen UID:
337976
Concept ID:
C1850135
Finding
The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones.
Short tibia
MedGen UID:
338005
Concept ID:
C1850259
Finding
Underdevelopment (reduced size) of the tibia.
Bowing of the long bones
MedGen UID:
340849
Concept ID:
C1855340
Congenital Abnormality
A bending or abnormal curvature of a long bone.
Abnormal metaphyseal trabeculation
MedGen UID:
387751
Concept ID:
C1857139
Finding
An abnormality of the pattern of trabecula (small interconnecting rods of bone) in a metaphyseal region of bone.
Femoral bowing
MedGen UID:
347888
Concept ID:
C1859461
Finding
Bowing (abnormal curvature) of the femur.
Contracture of the proximal interphalangeal joint of the 5th finger
MedGen UID:
767526
Concept ID:
C3554612
Finding
Proximal interphalangeal (PIP) flexion deformity of the little finger. That is, the PIP joint of a little finger is bent (flexed) and 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.
Adducted thumb
MedGen UID:
767531
Concept ID:
C3554617
Finding
In the resting position, the tip of the thumb is on, or near, the palm, close to the base of the fourth or fifth finger.
Pulmonary arterial medial hypertrophy
MedGen UID:
306155
Concept ID:
C1504382
Disease or Syndrome
Increase in mass of the tunica media of the arteries in the pulmonary circulation.
Pulmonary arterial hypertension
MedGen UID:
425404
Concept ID:
C2973725
Disease or Syndrome
Pulmonary hypertension is defined mean pulmonary artery pressure of 25mmHg or more and pulmonary capillary wedge pressure of 15mmHg or less when measured by right heart catheterisation at rest and in a supine position.
Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
Dysphagia
MedGen UID:
41440
Concept ID:
C0011168
Disease or Syndrome
Difficulty in swallowing.
Feeding difficulties
MedGen UID:
65429
Concept ID:
C0232466
Finding
Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.
Low-set ears
MedGen UID:
65980
Concept ID:
C0239234
Congenital Abnormality
Dysphagia
MedGen UID:
41440
Concept ID:
C0011168
Disease or Syndrome
Difficulty in swallowing.
Abnormal autonomic nervous system physiology
MedGen UID:
8511
Concept ID:
C0013363
Disease or Syndrome
A functional abnormality of the autonomic nervous system.
Absent patellar reflexes
MedGen UID:
643630
Concept ID:
C0558844
Finding
Impaired pain sensation
MedGen UID:
373348
Concept ID:
C1837522
Finding
Reduced ability to perceive painful stimuli.
Intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
A broad category of disorders characterized by an impairment to the intelligence an individual possesses. These impairments can result from trauma, birth, or disease and are not restricted to any particular age group.
Pathologic fracture
MedGen UID:
42095
Concept ID:
C0016663
Pathologic Function
A traumatic break in an area of bone that has been weakened by another disease process.
Micrognathia
MedGen UID:
44428
Concept ID:
C0025990
Congenital Abnormality
Developmental hypoplasia of the mandible.
Muscular hypotonia
MedGen UID:
10133
Concept ID:
C0026827
Finding
A condition of decreased tone of the skeletal muscles and diminished resistance to passive stretching.
Osteoporosis
MedGen UID:
14535
Concept ID:
C0029456
Disease or Syndrome
Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD).
Scoliosis
MedGen UID:
11348
Concept ID:
C0036439
Disease or Syndrome
The presence of an abnormal lateral curvature of the spine.
Talipes valgus
MedGen UID:
57757
Concept ID:
C0152236
Congenital Abnormality
Outward turning of the heel, resulting in clubfoot with the person walking on the inner part of the foot.
Frontal bossing
MedGen UID:
67453
Concept ID:
C0221354
Congenital Abnormality
Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
Ulnar deviation of finger
MedGen UID:
68543
Concept ID:
C0231679
Finding
Elbow flexion contracture
MedGen UID:
98367
Concept ID:
C0409338
Acquired Abnormality
Knee flexion contracture
MedGen UID:
98042
Concept ID:
C0409355
Finding
Thin ribs
MedGen UID:
98095
Concept ID:
C0426818
Finding
Short neck
MedGen UID:
99267
Concept ID:
C0521525
Finding
Diminished length of the neck.
Myotonia
MedGen UID:
675119
Concept ID:
C0700153
Finding
An involuntary and painless delay in the relaxation of skeletal muscle following contraction or electrical stimulation.
Short phalanx of finger
MedGen UID:
163753
Concept ID:
C0877165
Finding
Short (hypoplastic) phalanx of finger, affecting one or more phalanges.
Flexion contracture of toe
MedGen UID:
237248
Concept ID:
C1406835
Finding
One or more bent (flexed) toe joints that cannot be straightened actively or passively.
Metaphyseal rarefaction
MedGen UID:
371259
Concept ID:
C1832146
Finding
Reduction in density of metaphyseal bony tissue.
Broad ischia
MedGen UID:
324622
Concept ID:
C1836868
Finding
Increased width of the ischium, which forms the lower and back part of the hip bone.
Tibial bowing
MedGen UID:
332360
Concept ID:
C1837081
Finding
A bending or abnormal curvature of the tibia.
Thickened cortex of long bones
MedGen UID:
333557
Concept ID:
C1840418
Finding
Abnormal thickening of the cortex of long bones.
Hypoplastic iliac body
MedGen UID:
376500
Concept ID:
C1849034
Finding
Underdevelopment of the body of ilium.
Flared metaphysis
MedGen UID:
337976
Concept ID:
C1850135
Finding
The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones.
Short tibia
MedGen UID:
338005
Concept ID:
C1850259
Finding
Underdevelopment (reduced size) of the tibia.
short long bones
MedGen UID:
344385
Concept ID:
C1854912
Finding
One or more abnormally short long bone.
Bowing of the long bones
MedGen UID:
340849
Concept ID:
C1855340
Congenital Abnormality
A bending or abnormal curvature of a long bone.
Abnormal metaphyseal trabeculation
MedGen UID:
387751
Concept ID:
C1857139
Finding
An abnormality of the pattern of trabecula (small interconnecting rods of bone) in a metaphyseal region of bone.
Malar flattening
MedGen UID:
347616
Concept ID:
C1858085
Anatomical Abnormality
Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation.
Generalized hypotonia
MedGen UID:
346841
Concept ID:
C1858120
Finding
Generalized muscular hypotonia (abnormally low muscle tone).
Enlarged joints
MedGen UID:
347068
Concept ID:
C1859111
Finding
Increase in size of one or more joints.
Femoral bowing
MedGen UID:
347888
Concept ID:
C1859461
Finding
Bowing (abnormal curvature) of the femur.
Contracture of the proximal interphalangeal joint of the 5th finger
MedGen UID:
767526
Concept ID:
C3554612
Finding
Proximal interphalangeal (PIP) flexion deformity of the little finger. That is, the PIP joint of a little finger is bent (flexed) and 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.
Adducted thumb
MedGen UID:
767531
Concept ID:
C3554617
Finding
In the resting position, the tip of the thumb is on, or near, the palm, close to the base of the fourth or fifth finger.
Abnormal dental enamel morphology
MedGen UID:
867426
Concept ID:
C4021800
Anatomical Abnormality
An abnormality of the dental enamel.
Apnea
MedGen UID:
2009
Concept ID:
C0003578
Sign or Symptom
Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event.
Respiratory insufficiency
MedGen UID:
11197
Concept ID:
C0035229
Pathologic Function
Impairment of gas exchange within the lungs secondary to a disease process, neoplasm, or trauma, possibly resulting in hypoxia, hypercarbia, or both, but not requiring intubation or mechanical ventilation. Patients are normally managed with pharmaceutical therapy, supplemental oxygen, or both.
Pulmonary hypoplasia
MedGen UID:
78574
Concept ID:
C0265783
Congenital Abnormality
A congenital abnormality in which the lung parenchyma is not fully developed. It may be associated with other congenital abnormalities.
Pulmonary arterial medial hypertrophy
MedGen UID:
306155
Concept ID:
C1504382
Disease or Syndrome
Increase in mass of the tunica media of the arteries in the pulmonary circulation.
Pulmonary arterial hypertension
MedGen UID:
425404
Concept ID:
C2973725
Disease or Syndrome
Pulmonary hypertension is defined mean pulmonary artery pressure of 25mmHg or more and pulmonary capillary wedge pressure of 15mmHg or less when measured by right heart catheterisation at rest and in a supine position.
Recurrent fever
MedGen UID:
811468
Concept ID:
C3714772
Sign or Symptom
Hoarse voice
MedGen UID:
5602
Concept ID:
C0019825
Sign or Symptom
Hoarseness refers to a change in the pitch or quality of the voice, with the voice sounding weak, very breathy, scratchy, or husky.
Nasal speech
MedGen UID:
107884
Concept ID:
C0566620
Finding
A type of speech characterized by the presence of an abnormally increased nasal airflow during speech.
Micrognathia
MedGen UID:
44428
Concept ID:
C0025990
Congenital Abnormality
Developmental hypoplasia of the mandible.
Smooth tongue
MedGen UID:
510156
Concept ID:
C0155964
Disease or Syndrome
Glossy appearance of the entire tongue surface.
Frontal bossing
MedGen UID:
67453
Concept ID:
C0221354
Congenital Abnormality
Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
Short palpebral fissure
MedGen UID:
98067
Concept ID:
C0423112
Finding
Distance between the medial and lateral canthi is more than 2 SD below the mean for age (objective); or, apparently reduced length of the palpebral fissures.
Short neck
MedGen UID:
99267
Concept ID:
C0521525
Finding
Diminished length of the neck.
Square face
MedGen UID:
371253
Concept ID:
C1832127
Finding
Facial contours, as viewed from the front, show a broad upper face/cranium and lower face/mandible, creating a square appearance.
Pursed lips
MedGen UID:
371254
Concept ID:
C1832130
Finding
An abnormality of the appearance of the face caused by constant contraction of the lips leading to a puckered or pursed appearance.
Wide nasal base
MedGen UID:
341506
Concept ID:
C1849667
Finding
Increased distance between the attachments of the alae nasi to the face.
Short nose
MedGen UID:
343052
Concept ID:
C1854114
Finding
Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip.
Malar flattening
MedGen UID:
347616
Concept ID:
C1858085
Anatomical Abnormality
Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation.
Midface retrusion
MedGen UID:
388629
Concept ID:
C2673410
Finding
Abnormal dental enamel morphology
MedGen UID:
867426
Concept ID:
C4021800
Anatomical Abnormality
An abnormality of the dental enamel.
Thin skin
MedGen UID:
140848
Concept ID:
C0423757
Finding
Reduction in thickness of the skin, generally associated with a loss of suppleness and elasticity of the skin.
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.
Blotching pigmentation of the skin
MedGen UID:
870386
Concept ID:
C4024831
Finding
Opacification of the corneal stroma
MedGen UID:
602191
Concept ID:
C0423250
Finding
Reduced transparency of the stroma of cornea.

Recent clinical studies

Etiology

Palejwala NV, Stempel AJ, Stout JT
Retin Cases Brief Rep 2015 Summer;9(3):245-7. doi: 10.1097/ICB.0000000000000150. PMID: 25876185
Buonuomo PS, Macchiaiolo M, Cambiaso P, Rana I, Digilio MC, Bartuli A
Clin Dysmorphol 2014 Apr;23(2):45-46. doi: 10.1097/MCD.0000000000000023. PMID: 24477277
Injarie AM, Narang A, Idrees Z, Saggar AK, Nischal KK
Cornea 2012 Mar;31(3):269-72. doi: 10.1097/ICO.0b013e3182182089. PMID: 22316651
Begam MA, Alsafi W, Bekdache GN, Chedid F, Al-Gazali L, Mirghani HM
Ultrasound Obstet Gynecol 2011 Nov;38(5):553-8. doi: 10.1002/uog.8967. PMID: 21337444
Jung C, Dagoneau N, Baujat G, Le Merrer M, David A, Di Rocco M, Hamel B, Mégarbané A, Superti-Furga A, Unger S, Munnich A, Cormier-Daire V
Clin Genet 2010 Mar;77(3):266-72. doi: 10.1111/j.1399-0004.2009.01314.x. PMID: 20447141

Diagnosis

Siccha SM, Cueto AM, Parrón-Pajares M, González-Morán G, Pacio-Miguez M, Del Pozo Á, Solís M, Rodriguez-Jimenez C, Caino S, Fano V, Heath KE, García-Miñaúr S, Palomares-Bralo M, Santos-Simarro F
Am J Med Genet A 2021 Mar;185(3):856-865. Epub 2020 Dec 11 doi: 10.1002/ajmg.a.62010. PMID: 33305909
Artilheiro V, Portela F, Reis AT
J Appl Genet 2020 Dec;61(4):571-573. Epub 2020 Sep 10 doi: 10.1007/s13353-020-00581-5. PMID: 32910413
Van De Maele K, Smulders C, Ecury-Goossen G, Rosina-Angelista I, Redeker E, van Haelst M
Clin Dysmorphol 2019 Apr;28(2):57-62. doi: 10.1097/MCD.0000000000000255. PMID: 30614825
Knipe M, Stanbury R, Unger S, Chakraborty M
BMJ Case Rep 2015 Aug 30;2015 doi: 10.1136/bcr-2015-212032. PMID: 26323980Free PMC Article
Yeşil G, Lebre AS, Santos SD, Güran O, Özahi II, Daire VC, Güran T
Am J Med Genet A 2014 Sep;164A(9):2200-5. Epub 2014 Jul 2 doi: 10.1002/ajmg.a.36626. PMID: 24988918

Therapy

Chen YH, Zastrow DB, Metcalfe RD, Gartner L, Krause F, Morton CJ, Marwaha S, Fresard L, Huang Y, Zhao C, McCormack C, Bick D, Worthey EA, Eng CM, Gold J, Undiagnosed Diseases Network, Montgomery SB, Fisher PG, Ashley EA, Wheeler MT, Parker MW, Shanmugasundaram V, Putoczki TL, Schmidt-Arras D, Laurence A, Bernstein JA, Griffin MDW, Uhlig HH
J Allergy Clin Immunol 2021 Aug;148(2):585-598. Epub 2021 Mar 23 doi: 10.1016/j.jaci.2021.02.044. PMID: 33771552
Materna-Kiryluk A, Pollak A, Gawalski K, Szczawinska-Poplonyk A, Rydzynska Z, Sosnowska A, Cukrowska B, Gasperowicz P, Konopka E, Pietrucha B, Grzywa TM, Banaszak-Ziemska M, Niedziela M, Skalska-Sadowska J, Stawiński P, Śladowski D, Nowis D, Ploski R
Hum Mol Genet 2021 Apr 26;30(3-4):226-233. doi: 10.1093/hmg/ddab035. PMID: 33517393
Artilheiro V, Portela F, Reis AT
J Appl Genet 2020 Dec;61(4):571-573. Epub 2020 Sep 10 doi: 10.1007/s13353-020-00581-5. PMID: 32910413
Injarie AM, Narang A, Idrees Z, Saggar AK, Nischal KK
Cornea 2012 Mar;31(3):269-72. doi: 10.1097/ICO.0b013e3182182089. PMID: 22316651
Crisponi L, Crisponi G, Meloni A, Toliat MR, Nurnberg G, Usala G, Uda M, Masala M, Hohne W, Becker C, Marongiu M, Chiappe F, Kleta R, Rauch A, Wollnik B, Strasser F, Reese T, Jakobs C, Kurlemann G, Cao A, Nurnberg P, Rutsch F
Am J Hum Genet 2007 May;80(5):971-81. Epub 2007 Mar 30 doi: 10.1086/516843. PMID: 17436252Free PMC Article

Prognosis

Siccha SM, Cueto AM, Parrón-Pajares M, González-Morán G, Pacio-Miguez M, Del Pozo Á, Solís M, Rodriguez-Jimenez C, Caino S, Fano V, Heath KE, García-Miñaúr S, Palomares-Bralo M, Santos-Simarro F
Am J Med Genet A 2021 Mar;185(3):856-865. Epub 2020 Dec 11 doi: 10.1002/ajmg.a.62010. PMID: 33305909
Artilheiro V, Portela F, Reis AT
J Appl Genet 2020 Dec;61(4):571-573. Epub 2020 Sep 10 doi: 10.1007/s13353-020-00581-5. PMID: 32910413
Sarafidis K, Piretzi K, Agakidou E, Kohlhase J, Zafeiriou D
Pediatr Int 2015 Apr;57(2):302-4. doi: 10.1111/ped.12431. PMID: 25868946
Yeşil G, Lebre AS, Santos SD, Güran O, Özahi II, Daire VC, Güran T
Am J Med Genet A 2014 Sep;164A(9):2200-5. Epub 2014 Jul 2 doi: 10.1002/ajmg.a.36626. PMID: 24988918
Injarie AM, Narang A, Idrees Z, Saggar AK, Nischal KK
Cornea 2012 Mar;31(3):269-72. doi: 10.1097/ICO.0b013e3182182089. PMID: 22316651

Clinical prediction guides

Siccha SM, Cueto AM, Parrón-Pajares M, González-Morán G, Pacio-Miguez M, Del Pozo Á, Solís M, Rodriguez-Jimenez C, Caino S, Fano V, Heath KE, García-Miñaúr S, Palomares-Bralo M, Santos-Simarro F
Am J Med Genet A 2021 Mar;185(3):856-865. Epub 2020 Dec 11 doi: 10.1002/ajmg.a.62010. PMID: 33305909
Palejwala NV, Stempel AJ, Stout JT
Retin Cases Brief Rep 2015 Summer;9(3):245-7. doi: 10.1097/ICB.0000000000000150. PMID: 25876185
Corona-Rivera JR, Cormier-Daire V, Dagoneau N, Coello-Ramírez P, López-Marure E, Romo-Huerta CO, Silva-Baez H, Aguirre-Salas LM, Estrada-Solorio MI
Eur J Med Genet 2009 Jul-Aug;52(4):242-6. Epub 2009 Apr 14 doi: 10.1016/j.ejmg.2009.04.001. PMID: 19371797
Raas-Rothschild A, Ergaz-Schaltiel Z, Bar-Ziv J, Rein AJ
Am J Med Genet A 2003 Aug 30;121A(2):156-8. doi: 10.1002/ajmg.a.20066. PMID: 12910496
Superti-Furga A, Tenconi R, Clementi M, Eich G, Steinmann B, Boltshauser E, Giedion A
Am J Med Genet 1998 Jun 30;78(2):150-4. doi: 10.1002/(sici)1096-8628(19980630)78:2<150::aid-ajmg10>3.0.co;2-m. PMID: 9674906

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