Novel mutations of PAX3, MITF, and SOX10 genes in Chinese patients with type I or type II Waardenburg syndrome

Biochemical and Biophysical Research Communications

Volumn 397, Issue 1, 2010, Pages 70-74

  Chen, Hongsheng ^a   Jiang, Lu ^a   Xie, Zhiguo ^b   Mei, Lingyun ^a   He, Chufeng ^a   Hu, Zhengmao ^b   Xia, Kun ^b   Feng, Yong ^a,b  

^a CENTRAL SOUTH UNIVERSITY   (China)

^b CENTRAL SOUTH UNIVERSITY   (China)

Author keywords

MITF; PAX3; SNAI2; SOX10; Waardenburg syndrome

Indexed keywords

MICROPHTHALMIA ASSOCIATED TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR PAX3; TRANSCRIPTION FACTOR SOX10;

ADOLESCENT; ADULT; ARTICLE; CHILD; CHINESE; CLINICAL ARTICLE; CLINICAL EVALUATION; CONTROLLED STUDY; ETHNIC GROUP; FACE MALFORMATION; FAMILY STUDY; FEMALE; GENE FREQUENCY; GENE MUTATION; GENETIC ASSOCIATION; GENETIC SCREENING; GENETIC VARIABILITY; HUMAN; IRIS DISEASE; LENTIGO; MALE; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PERCEPTION DEAFNESS; PHENOTYPE; PIGMENT DISORDER; POLYMERASE CHAIN REACTION; POPULATION GENETICS; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; WAARDENBURG SYNDROME;

ADOLESCENT; ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; CHILD; CHILD, PRESCHOOL; FEMALE; HUMANS; INFANT; MALE; MICROPHTHALMIA-ASSOCIATED TRANSCRIPTION FACTOR; MUTATION; PAIRED BOX TRANSCRIPTION FACTORS; PEDIGREE; SOXE TRANSCRIPTION FACTORS; WAARDENBURG'S SYNDROME; YOUNG ADULT;

EID: 77953616965     PISSN: 0006291X     EISSN: 10902104     Source Type: Journal    
DOI: 10.1016/j.bbrc.2010.05.066     Document Type: Article

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