Novel splicing‐site mutation in DCAF17 gene causing Woodhouse‐Sakati syndrome in a large consanguineous family

BACKGROUND: Woodhouse‐Sakati syndrome is a rare autosomal recessive disease with endocrine and neuroectodermal aberrations with heterogeneous phenotypes and disease course. The most common phenotypes of the disease are progressive sensorineural hearing loss and alopecia, mild‐to‐moderate mental reta...

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Detalles Bibliográficos
Autores principales: Fozia, Fozia, Shah, Khadim, Nazli, Rubina, Khan, Sher Alam, Ahmad, Ijaz, Mohammad, Noor, Khan, Saadullah, Alotaibi, Amal
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8761431/
https://www.ncbi.nlm.nih.gov/pubmed/34877714
http://dx.doi.org/10.1002/jcla.24127

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8761431/
https://www.ncbi.nlm.nih.gov/pubmed/34877714
http://dx.doi.org/10.1002/jcla.24127

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