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De Novo variants in GREB1L are associated with non-syndromic inner ear malformations and deafness
Congenital inner ear malformations affecting both the osseous and membranous labyrinth can have a devastating impact on hearing and language development. With the exception of an enlarged vestibular aqueduct, non-syndromic inner ear malformations are rare, and their underlying molecular biology has...
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| Publicado no: | Hum Genet |
|---|---|
| Main Authors: | , , , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2018
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6082420/ https://ncbi.nlm.nih.gov/pubmed/29955957 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00439-018-1898-8 |
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