A Novel ESRRB Deletion Is a Rare Cause of Autosomal Recessive Nonsyndromic Hearing Impairment among Pakistani Families

Mutations in the estrogen-related receptor beta (ESRRB) gene is the underlying cause of autosomal recessive nonsyndromic hearing impairment (ARNSHI) due to the DFNB35 locus which maps to 14q24.3. A genome scan of a large consanguineous Pakistani pedigree with ARNSHI established linkage with a maximu...

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Detalles Bibliográficos
Autores principales: Lee, Kwanghyuk, Khan, Saadullah, Ansar, Muhammad, Santos-Cortez, Regie Lyn P., Ahmad, Wasim, Leal, Suzanne M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE-Hindawi Access to Research 2011
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3335572/
https://www.ncbi.nlm.nih.gov/pubmed/22567352
http://dx.doi.org/10.4061/2011/368915

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3335572/
https://www.ncbi.nlm.nih.gov/pubmed/22567352
http://dx.doi.org/10.4061/2011/368915

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