Correlation between Waardenburg syndrome phenotype and genotype in a population of individuals with identified PAX3 mutations

Human Genetics

Volumn 102, Issue 5, 1998, Pages 499-506

  DeStefano, Anita L ^a   Cupples, L Adrienne ^a   Arnos, Kathleen S ^b   Asher Jr , James H ^c   Baldwin, Clinton T ^a   Blanton, Susan ^d   Carey, Melisa L ^a,c   Da Silva, Elias O ^e   Friedman, Thomas B ^c   Greenberg, Jacquie ^f   Lalwani, Anil K ^g   Milunsky, Aubrey ^a   Nance, Walter E ^d   Pandya, Arti ^d   Ramesar, Rajkumar S ^f   Read, Andrew P ^h   Tassabejhi, May ^h   Wilcox, Edward R ⁱ   Farrer, Lindsay A ^a  

^a BOSTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b GALLAUDET UNIVERSITY   (United States)

^c MICHIGAN STATE UNIVERSITY   (United States)

^d VIRGINIA COMMONWEALTH UNIVERSITY   (United States)

^e FEDERAL UNIVERSITY OF PERNAMBUCO   (Brazil)

^f UNIVERSITY OF CAPE TOWN   (South Africa)

^g UNIVERSITY OF CALIFORNIA   (United States)

^h UNIVERSITY OF MANCHESTER   (United Kingdom)

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

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; HOMEODOMAIN PROTEIN; PIGMENT;

AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CONTROLLED STUDY; FEMALE; GENE DELETION; GENE MUTATION; GENE STRUCTURE; GENETIC ASSOCIATION; GENETIC RISK; GENOTYPE; HETEROTOPIA; HUMAN; HUMAN CELL; HYPOPIGMENTATION; MAJOR CLINICAL STUDY; MALE; PERCEPTION DEAFNESS; PHENOTYPE; POPULATION GENETICS; PRIORITY JOURNAL; SKIN PIGMENTATION; WAARDENBURG SYNDROME;

DNA-BINDING PROTEINS; GENOTYPE; HEARING DISORDERS; HUMANS; MUTATION; ODDS RATIO; PAIRED BOX TRANSCRIPTION FACTORS; PHENOTYPE; PIGMENTATION DISORDERS; TRANSCRIPTION FACTORS; WAARDENBURG'S SYNDROME;

EID: 0031798919     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050732     Document Type: Article

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