Whole-exome sequencing identifies a novel missense variant within LOXHD1 causing rare hearing loss in a Chinese family

BACKGROUND: Deafness, autosomal recessive 77 (DFNB77) is a rare non-syndromic hearing loss (NSHL) worldwide, which is caused by deleterious variants within lipoxygenase homology domains 1 (LOXHD1). Here we identified that a novel missense variant of LOXHD1 was associated with NSHL in a Chinese famil...

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Detalles Bibliográficos
Autores principales: Shen, Na, Wang, Ting, Li, Delei, Liu, Aiguo, Lu, Yanjun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6373029/
https://www.ncbi.nlm.nih.gov/pubmed/30760222
http://dx.doi.org/10.1186/s12881-019-0758-2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6373029/
https://www.ncbi.nlm.nih.gov/pubmed/30760222
http://dx.doi.org/10.1186/s12881-019-0758-2

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