A novel mutation of the PAX3 gene in a Chinese family with Waardenburg syndrome type I

BACKGROUND: To analyze the clinical phenotypes and genetic variants of a Chinese family with Waardenburg syndrome (WS) and to explore the possible molecular pathogenesis of WS. METHODS: The clinical data from a patient and his family were collected. The genomic DNA of the patient and his family was...

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Detalhes bibliográficos
Publicado no:Mol Genet Genomic Med
Main Authors: Ma, Jing, Lin, Ken, Jiang, Hong‐chao, Yang, Yanli, Zhang, Yu, Yang, Guilian, Sun, Hao, Ming, Cheng, Bi, Xianyun, Zhang, Tiesong, Ruan, Biao
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2019
Assuntos:
Original Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6625151/
https://ncbi.nlm.nih.gov/pubmed/31190477
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.798
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