Exome sequencing identifies SLC26A4, GJB2, SCARB2 and DUOX2 mutations in 2 siblings with Pendred syndrome in a Malaysian family

BACKGROUND: Pendred syndrome (PDS, MIM #274600) is an autosomal recessive disorder characterized by congenital sensorineural hearing loss and goiter. In this study, we describing the possible PDS causal mutations in a Malaysian family with 2 daughters diagnosed with bilateral hearing loss and hypoth...

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Detalles Bibliográficos
Autores principales: Chow, Yock-Ping, Abdul Murad, Nor Azian, Mohd Rani, Zamzureena, Khoo, Jia-Shiun, Chong, Pei-Sin, Wu, Loo-Ling, Jamal, Rahman
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5320863/
https://www.ncbi.nlm.nih.gov/pubmed/28222800
http://dx.doi.org/10.1186/s13023-017-0575-7

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