Case Report: Prenatal Diagnosis of a Novel Variant c.251dupT (p.N87Kfs*6) in BCOR Resulting in Oculofaciocardiodental Syndrome Using Whole-Exome Sequencing

Background: Oculofaciocardiodental (OFCD) syndrome is an X-linked dominant syndrome caused by BCOR variants, which manifests only in females and presumed leading to male lethality. Herein, we aim to present a prenatal diagnosis for OFCD syndrome associated with a novel hemizygous variant in BCOR gen...

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Detalles Bibliográficos
Autores principales: Zhuang, Jianlong, Chen, Chunnuan, Chen, Yu’e, Zeng, Shuhong, Jiang, Yuying, Wang, Yuanbai, Chen, Xinying, Xie, Yingjun, Wang, Gaoxiong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8990034/
https://www.ncbi.nlm.nih.gov/pubmed/35401667
http://dx.doi.org/10.3389/fgene.2022.829613

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8990034/
https://www.ncbi.nlm.nih.gov/pubmed/35401667
http://dx.doi.org/10.3389/fgene.2022.829613

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