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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...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Dove
2020
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| Materias: | |
| 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 |