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Prenatal diagnosis and genetic analysis of a fetus with Branchio-oto-renal syndrome: A case report
Branchio-oto-renal (BOR) syndrome is an autosomal-dominant disorder characterized by branchial arch anomalies, hearing loss, and kidney defects. Mutations in the human EYA1 gene have been reported associated with BOR syndrome. Here we identified that a novel variant, EYA1: NM_000503.4: c.827-1G >...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Lippincott Williams & Wilkins
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9622624/ https://www.ncbi.nlm.nih.gov/pubmed/36316881 http://dx.doi.org/10.1097/MD.0000000000031172 |