Novel BMP4 Truncations Resulted in Opposite Ocular Anomalies: Pathologic Myopia Rather Than Microphthalmia

BMP4 variants have been reported to be associated with syndromic microphthalmia (MCOPS6, OMIM 607932). This study aims to describe BMP4 truncation mutations contributing to a novel phenotype in eight patients from four Chinese families. In this study, BMP4 variants were collected from a large datase...

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Detalhes bibliográficos

Principais autores:	Yi Jiang, Jiamin Ouyang, Xueqing Li, Yingwei Wang, Lin Zhou, Shiqiang Li, Xiaoyun Jia, Xueshan Xiao, Wenmin Sun, Panfeng Wang, Qingjiong Zhang
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Frontiers Media S.A. 2021-12-01
coleção:	Frontiers in Cell and Developmental Biology
Assuntos:	pathologic myopia early-onset myopia BMP4 truncation variants microphthalmia
Acesso em linha:	https://www.frontiersin.org/articles/10.3389/fcell.2021.769636/full
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