MFRP variations cause nanophthalmos in five Chinese families with distinct phenotypic diversity

MFRP variations cause nanophthalmos in five Chinese families with distinct phenotypic diversity

PurposeNanophthalmos is a congenital ocular structural anomaly that can cause significant visual loss in children. The early diagnosis and then taking appropriate clinical and surgical treatment remains a challenge for many ophthalmologists because of genetic and phenotypic heterogeneity. The object...

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Bibliographic Details
Main Authors: Zhen Li, Runqing Ma, Meijiao Ma, Xue Xiao, Xiaolong Qi, Hongjuan Ma, Xunlun Sheng, Weining Rong
Format: Article
Language:English
Published: Frontiers Media S.A. 2024-07-01
Series:Frontiers in Genetics
Subjects:
nanophthalmos
whole exome sequencing
genetic variant
clinical
MFRP
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2024.1407361/full

Internet

https://www.frontiersin.org/articles/10.3389/fgene.2024.1407361/full

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