A Novel Mutation in the Membrane Frizzled-Related Protein Gene for Posterior Microphthalmia, Non-pigmented Retinitis Pigmentosa, Optic Nerve Drusen, and Retinoschisis in a Consanguineous Family

BACKGROUND: Microphthalmos (MCO) is a rare developmental defect characterized by small malformed eyes. Our study aimed to describe the clinical characteristics of posterior microphthalmos syndrome caused by a novel variant in MFRP gene in a Chinese patient. METHODS: Complete ophthalmologic examinati...

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Detalles Bibliográficos
Autores principales: Ren, Xiang, Gao, Yunxia, Lin, Yu, Fu, Xiangyu, Xiao, Lirong, Wang, Xiaoyue, Zeng, Zhibing, Bao, Li, Yan, Naihong, Zhang, Ming, Tang, Li
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Medicine
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8987310/
https://www.ncbi.nlm.nih.gov/pubmed/35402469
http://dx.doi.org/10.3389/fmed.2022.835621

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