A Rare Mutation in the MARVELD2 Gene Can Cause Nonsyndromic Hearing Loss

The MARVELD2 gene which is located on the 5q13.2 may cause nonsyndromic hearing loss (NSHL) with autosomal recessive inherited pattern. So far c.1331+1G>A (IVS4+1G>A); NM_001038603.3, variant in deafness, has only reported previously in one Pakistani family in 2008 and it is reported for the f...

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Detalles Bibliográficos
Autores principales: Sadeghi, Zahra, Chavoshi Tarzjani, Seyedeh Parisa, Miri Moosavi, Reyhaneh Sadat, Saber, Siamak, Ebrahimi, Ahmad
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Dove 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7434373/
https://www.ncbi.nlm.nih.gov/pubmed/32884365
http://dx.doi.org/10.2147/IMCRJ.S257654

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7434373/
https://www.ncbi.nlm.nih.gov/pubmed/32884365
http://dx.doi.org/10.2147/IMCRJ.S257654

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