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...

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Detalles Bibliográficos
Autores principales: Hu, Qian, Mai, Jingqun, Xiang, Qinqin, Zhou, Bin, Liu, Shanling, Wang, Jing
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Case Report
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

Internet

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

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