Unraveling the genetic cause of a consanguineous family with unilateral coloboma and retinoschisis: expanding the phenotypic variability of RAX mutations

Ocular coloboma is a common eye malformation arising from incomplete closure of the human optic fissure during development. Multiple genetic mutations contribute to the disease process, showing extensive genetic heterogeneity and complexity of coloboma spectrum diseases. In this study, we aimed to u...

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Detalles Bibliográficos
Autores principales: Huang, Xiu-Feng, Huang, Zhi-Qin, Lin, Dan, Dai, Ma-Li, Wang, Qing-Feng, Chen, Zhen-Ji, Jin, Zi-Bing, Wang, Yuqin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5567291/
https://www.ncbi.nlm.nih.gov/pubmed/28831107
http://dx.doi.org/10.1038/s41598-017-09276-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5567291/
https://www.ncbi.nlm.nih.gov/pubmed/28831107
http://dx.doi.org/10.1038/s41598-017-09276-0

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