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A Novel Mutation in CRYGC Mutation Associated with Autosomal Dominant Congenital Cataracts and Microcornea

PURPOSE: Crystallin protein mutations are associated with congenital cataract (CC), and several disease-causing mutations in the CRYGC gene have been identified. We present the location of a new mutation in CRYGC in members of a Chinese family who presented with CCs with or without microcornea. DESI...

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Detalles Bibliográficos
Autores principales: Zhou, Zhenbao, Zhao, Liying, Guo, Yanqin, Zhuang, Jingyi, Zhuo, Nan, Chen, Han, Liu, Jieting, Wang, Libo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9560566/
https://www.ncbi.nlm.nih.gov/pubmed/36246175
http://dx.doi.org/10.1016/j.xops.2021.100093