Deafness, autosomal recessive 36, without vestibular involvement

MedGen UID:: 502692
•Concept ID:: C3502293
•: Disease or Syndrome

Synonym:	Deafness, Autosomal Recessive 36, Without Vestibular Involvement

OMIM®:	606351

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Etiology

Functional null mutations of MSRB3 encoding methionine sulfoxide reductase are associated with human deafness DFNB74.

Ahmed ZM, Yousaf R, Lee BC, Khan SN, Lee S, Lee K, Husnain T, Rehman AU, Bonneux S, Ansar M, Ahmad W, Leal SM, Gladyshev VN, Belyantseva IA, Van Camp G, Riazuddin S, Friedman TB, Riazuddin S
Am J Hum Genet 2011 Jan 7;88(1):19-29. Epub 2010 Dec 23 doi: 10.1016/j.ajhg.2010.11.010. PMID: 21185009 Free PMC Article

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Deafness, autosomal recessive 36, without vestibular involvement

Recent clinical studies

Etiology

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