Addition of an affected family member to a previously ascertained autosomal recessive nonsyndromic hearing loss pedigree and systematic phenotype-genotype analysis of splice-site variants in MYO15A

Pathogenic variants in MYO15A are known to cause autosomal recessive nonsyndromic hearing loss (ARNSHL), DFNB3. We have previously reported on one ARNSHL family including two affected siblings and identified MYO15A c.5964+3G > A and c.8375 T > C (p.Val2792Ala) as the possible deafness-causing...

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Detalles Bibliográficos
Autores principales: Yang, Jin-Yuan, Wang, Wei-Qian, Han, Ming-Yu, Huang, Sha-Sha, Wang, Guo-Jian, Su, Yu, Xu, Jin-Cao, Fu, Ying, Kang, Dong-Yang, Yang, Kun, Zhang, Xin, Liu, Xing, Gao, Xue, Yuan, Yong-Yi, Dai, Pu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9673454/
https://www.ncbi.nlm.nih.gov/pubmed/36401330
http://dx.doi.org/10.1186/s12920-022-01368-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9673454/
https://www.ncbi.nlm.nih.gov/pubmed/36401330
http://dx.doi.org/10.1186/s12920-022-01368-9

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