Novel mutations in the SOX10 gene in the first two Chinese cases of type IV Waardenburg syndrome

Biochemical and Biophysical Research Communications

Volumn 408, Issue 4, 2011, Pages 620-624

  Jiang, Lu ^a,c   Chen, Hongsheng ^a,c   Jiang, Wen ^b   Hu, Zhengmao ^d   Mei, Lingyun ^a,c   Xue, Jingjie ^d   He, Chufeng ^a,c   Liu, Yalan ^d   Xia, Kun ^d   Feng, Yong ^a,c,d  

^a CENTRAL SOUTH UNIVERSITY   (China)

^b Second Affiliated Hospital of Hunan Normal University (163 Hospital of PLA)   (China)

^c Hunan Key Laboratory of Otolaryngology Critical Diseases   (China)

^d CENTRAL SOUTH UNIVERSITY   (China)

Author keywords

Hirschsprung disease; Shah Waardenburg syndrome; SOX10 gene

Indexed keywords

GENOMIC DNA; TRANSCRIPTION FACTOR SOX10;

ANAMNESIS; ARTICLE; CASE REPORT; CHILD; CHINESE; CONTROLLED STUDY; FEMALE; GENE MUTATION; GENE SEQUENCE; HEARING TEST; HETEROZYGOTE; HUMAN; MALE; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PEDIGREE ANALYSIS; PHENOTYPIC VARIATION; PHYSICAL EXAMINATION; PRESCHOOL CHILD; PRIORITY JOURNAL; WAARDENBURG SYNDROME;

AMINO ACID SEQUENCE; ASIAN CONTINENTAL ANCESTRY GROUP; CHILD; FEMALE; HUMANS; INFANT; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; SOXE TRANSCRIPTION FACTORS; WAARDENBURG'S SYNDROME;

EID: 79956188863     PISSN: 0006291X     EISSN: 10902104     Source Type: Journal    
DOI: 10.1016/j.bbrc.2011.04.072     Document Type: Article

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