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Identification of ANLN as a new likely pathogenic gene of branchio‐otic syndrome in a three‐generation Chinese family
BACKGROUND: Branchio‐oto‐renal (BOR) syndrome is one of the most common autosomal dominant hearing loss syndromes and features clinical and genetic heterogeneity. When there is no renal deformity, this disease can also be called branchio‐otic (BO) syndrome. Though many genes have been reported, ther...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2018
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6393648/ https://www.ncbi.nlm.nih.gov/pubmed/30548429 http://dx.doi.org/10.1002/mgg3.525 |