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Novel homozygous protein‐truncating mutation of BBS9 identified in a Chinese consanguineous family with Bardet–Biedl syndrome
BACKGROUND: Bardet–Biedl syndrome (BBS) is a rare and genetically heterogeneous disease with a broad spectrum of clinical features, including but not limited to rod‐cone dystrophy, postaxial polydactyly, central obesity, intellectual disability, hypogonadism, and renal dysfunction. Twenty‐one BBS (B...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2021
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8404240/ https://www.ncbi.nlm.nih.gov/pubmed/34212515 http://dx.doi.org/10.1002/mgg3.1731 |