Evidence suggesting digenic inheritance of waardenburg syndrome type II with ocular albinism

American Journal of Medical Genetics, Part A

Volumn 149, Issue 12, 2009, Pages 2739-2744

  Chiang, Pei Wen ^a   Spector, Elaine ^a   McGregor, Tracy L ^b  

^a UNIVERSITY OF COLORADO SCHOOL OF MEDICINE   (United States)

^b MONROE CARELL JR CHILDREN S HOSPITAL AT VANDERBILT   (United States)

Author keywords

MITF; OCA1; OCA3; Ocular albinism; Oculocutaneous albinism; Pigmentation; Waardenburg syndrome

Indexed keywords

MEMBRANE PROTEIN; MICROPHTHALMIA ASSOCIATED TRANSCRIPTION FACTOR; PROTEIN OCA3; TYROSINE; UNCLASSIFIED DRUG;

ADULT; ALLELE; ARTICLE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; EXON; FEMALE; GENE DELETION; GENE MUTATION; HETEROZYGOTE; HUMAN; INFANT; INHERITANCE; INTRON; MALE; OCULAR ALBINISM; PHENOTYPE; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; WAARDENBURG SYNDROME;

ADULT; ALBINISM, OCULAR; BASE SEQUENCE; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; INFANT; INHERITANCE PATTERNS; MALE; MOLECULAR SEQUENCE DATA; PEDIGREE; WAARDENBURG'S SYNDROME;

EID: 71949106511     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33128     Document Type: Article

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