Craniofacial-Deafness-Hand Syndrome Revisited

American Journal of Medical Genetics

Volumn 123 A, Issue 1, 2003, Pages 91-94

  Sommer, Annemarie ^a,b   Bartholomew, Dennis W ^a  

^a OHIO STATE UNIVERSITY   (United States)

^b NATIONWIDE CHILDREN S HOSPITAL   (United States)

Author keywords

Craniofacial deafness hand syndrome; Hand anomalies; Hypertelorism; PAX3; Sensorineural deafness

Indexed keywords

ADULT; ARTICLE; CALVARIA; CASE REPORT; CLINICAL FEATURE; CRANIOFACIAL DEAFNESS HAND SYNDROME; CRANIOFACIAL MALFORMATION; DISEASE COURSE; DOWNWARD PALPEBRAL SLANT; FACE SURGERY; FEMALE; FINGER MALFORMATION; FOLLOW UP; GENE; HAND SURGERY; HETEROTOPIA; HUMAN; HYPERTELORISM; MALE; MISSENSE MUTATION; MOTHER; NEWBORN; NOSE; PALPEBRAL FISSURE ANOMALY; PATHOGENESIS; PAX3 GENE; PERCEPTION DEAFNESS; PHENOTYPE; PRIORITY JOURNAL; PROGENY; SYNDROME; TREATMENT OUTCOME; ULNAR NERVE; WAARDENBURG SYNDROME;

EID: 0142139339     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.20501     Document Type: Article

References (2)

1. Asher JH, Sommer A, Morell R, Friedman TB. 1996. Missense mutation in the paired domain of PAX 3 causes craniofacial-deafness-hand syndrome. Hum Mutat 7:30-35.
2. Sommer A, Young-Wee T, Frye T. 1983. Previously undescribed syndrome of craniofacial, hand anomalies, and sensorineural deafness. Am J Med Genet 15:71-77.