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A novel recessive PDZD7 bi-allelic mutation in an Iranian family with non-syndromic hearing loss
BACKGROUND: Autosomal recessive non-syndromic hearing loss (ARNSHL) is genetically and phenotypically heterogeneous with over 110 genes causally implicated in syndromic and non-syndromic hearing loss. Here, we investigate the genetic etiology of deafness in two GJB2 and GJB6 negative patients presen...
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| Publicado no: | BMC Med Genomics |
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| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2021
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7852090/ https://ncbi.nlm.nih.gov/pubmed/33530996 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12920-021-00884-4 |
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