Septo-optic dysplasia and WS1 in the proband of a WS1 family segregating for a novel mutation in PAX3 exon 7

Journal of Medical Genetics

Volumn 35, Issue 3, 1998, Pages 248-250

  Carey, Melisa L ^a,d   Friedman, Thomas B ^a,b,e   Asher Jr , James H ^a,b   Innis, Jeffrey W ^c  

^a MICHIGAN STATE UNIVERSITY   (United States)

^b MICHIGAN STATE UNIVERSITY   (United States)

^c UNIVERSITY OF MICHIGAN   (United States)

^d GLAXOSMITHKLINE   (United States)

^e NATIONAL INSTITUTE ON DEAFNESS AND OTHER COMMUNICATION DISORDERS   (United States)

Author keywords

PAX3; Septo optic dysplasia; Waardenburg syndrome

Indexed keywords

GLUTAMINE; HISTIDINE; MUTANT PROTEIN;

AMINO ACID SUBSTITUTION; ARTICLE; BRAIN MALFORMATION; CONTROLLED STUDY; EXON; FAMILY STUDY; FEMALE; GENE; GENE SEGREGATION; HUMAN; MALE; MISSENSE MUTATION; PRIORITY JOURNAL; WAARDENBURG SYNDROME;

EID: 0031923931     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.35.3.248     Document Type: Article

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