Oculofaciocardiodental syndrome caused by a novel BCOR variant

Oculofaciocardiodental syndrome is caused by variants in the BCL6 corepressor (BCOR) gene. We identified a novel heterozygous frameshift variant, NM_001123385.2(BCOR):c.2326del, that arose de novo in a Japanese girl with characteristic facial features, congenital heart disease, bilateral syndactyly...

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Detalles Bibliográficos
Autores principales: Yamashita, Tomoyo, Hotta, Junko, Jogu, Yukiko, Sakai, Eri, Ono, Chie, Bamba, Haruka, Suzuki, Hisato, Yamada, Mamiko, Takenouchi, Toshiki, Kosaki, Kenjiro, Yorifuji, Tohru, Hamazaki, Takashi, Seto, Toshiyuki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10261115/
https://www.ncbi.nlm.nih.gov/pubmed/37308473
http://dx.doi.org/10.1038/s41439-023-00244-x

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10261115/
https://www.ncbi.nlm.nih.gov/pubmed/37308473
http://dx.doi.org/10.1038/s41439-023-00244-x

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