A de novo deletion mutation in SOX10 in a Chinese family with Waardenburg syndrome type 4

A de novo deletion mutation in SOX10 in a Chinese family with Waardenburg syndrome type 4

Waardenburg syndrome type 4 (WS4) or Waardenburg-Shah syndrome is a rare genetic disorder with a prevalence of

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Bibliographische Detailangaben
Veröffentlicht in:Scientific reports 2017-01, Vol.7 (1), p.41513, Article 41513
Hauptverfasser: Wang, Xiong, Zhu, Yaowu, Shen, Na, Peng, Jing, Wang, Chunyu, Liu, Haiyi, Lu, Yanjun
Format: Artikel
Sprache:eng
Schlagworte:
631/208/1516/1510
692/308/2056
Deoxyribonucleic acid
DNA
Endothelin 3
Endothelins
Gene deletion
Genetic counseling
Genetic disorders
Genetic screening
Hearing loss
Humanities and Social Sciences
Intestine
Minority & ethnic groups
multidisciplinary
Mutation
Phylogeny
Science
Science (multidisciplinary)
Sox10 protein
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Beschreibung
Zusammenfassung:Waardenburg syndrome type 4 (WS4) or Waardenburg-Shah syndrome is a rare genetic disorder with a prevalence of
ISSN:2045-2322
2045-2322
DOI:10.1038/srep41513