Frameshift variant in MITF gene in a large family with Waardenburg syndrome type II and a co-segregation of a C2orf74 variant

Waardenburg syndrome (WS) is a hereditary disorder affecting the auditory system and pigmentation of hair, eyes, and skin. Different variants of the disease exist with the involvement of mutation in six genes. The aim of the study is to identify the genetic defects underlying Waardenburg syndrome in...

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Detalles Bibliográficos
Autores principales: Albarry, Maan Abdullah, Latif, Muhammad, Alreheli, Ahdab Qasem, Awadh, Mohammed A., Almatrafi, Ahmad M., Albalawi, Alia M., Basit, Sulman
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2021
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7877624/
https://www.ncbi.nlm.nih.gov/pubmed/33571247
http://dx.doi.org/10.1371/journal.pone.0246607

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7877624/
https://www.ncbi.nlm.nih.gov/pubmed/33571247
http://dx.doi.org/10.1371/journal.pone.0246607

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