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A novel deletion mutation in the BCOR gene is associated with oculo-facio-cardio-dental syndrome: a case report
BACKGROUND: Oculo-facio-cardio-dental syndrome is a rare X-linked dominant syndrome, characterized by radiculomegaly, congenital cataracts, dysmorphic facial features, and congenital heart disease. Because of the rarity, this syndrome could be misdiagnosed by the clinician, especially for the infant...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8819928/ https://www.ncbi.nlm.nih.gov/pubmed/35130870 http://dx.doi.org/10.1186/s12887-022-03148-x |