Identification of a Novel De Novo Variant in the PAX3 Gene in Waardenburg Syndrome by Diagnostic Exome Sequencing: The First Molecular Diagnosis in Korea

Waardenburg syndrome (WS) is a clinically and genetically heterogeneous hereditary auditory pigmentary disorder characterized by congenital sensorineural hearing loss and iris discoloration. Many genes have been linked to WS, including PAX3, MITF, SNAI2, EDNRB, EDN3, and SOX10, and many additional g...

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Detalles Bibliográficos
Autores principales: Jang, Mi-Ae, Lee, Taeheon, Lee, Junnam, Cho, Eun-Hae, Ki, Chang-Seok
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Society for Laboratory Medicine 2015
Materias:
Brief Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4390707/
https://www.ncbi.nlm.nih.gov/pubmed/25932447
http://dx.doi.org/10.3343/alm.2015.35.3.362

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4390707/
https://www.ncbi.nlm.nih.gov/pubmed/25932447
http://dx.doi.org/10.3343/alm.2015.35.3.362

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