Identification of a Novel Mutation in BRD4 that Causes Autosomal Dominant Syndromic Congenital Cataracts Associated with Other Neuro-Skeletal Anomalies

Congenital cataracts can occur as a non-syndromic isolated ocular disease or as a part of genetic syndromes accompanied by a multi-systemic disease. Approximately 50% of all congenital cataract cases have a heterogeneous genetic basis. Here, we describe three generations of a family with an autosoma...

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Detalles Bibliográficos
Autores principales: Jin, Hyun-Seok, Kim, Jeonhyun, Kwak, Woori, Jeong, Hyeonsoo, Lim, Gyu-Bin, Lee, Cha Gon
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2017
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5226720/
https://www.ncbi.nlm.nih.gov/pubmed/28076398
http://dx.doi.org/10.1371/journal.pone.0169226

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5226720/
https://www.ncbi.nlm.nih.gov/pubmed/28076398
http://dx.doi.org/10.1371/journal.pone.0169226

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