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

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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Autores principales: Yi Jiang, Jiamin Ouyang, Xueqing Li, Yingwei Wang, Lin Zhou, Shiqiang Li, Xiaoyun Jia, Xueshan Xiao, Wenmin Sun, Panfeng Wang, Qingjiong Zhang
Formato: article
Lenguaje:EN
Publicado: Frontiers Media S.A. 2021
Materias:
pathologic myopia
early-onset myopia
BMP4
truncation variants
microphthalmia
Biology (General)
QH301-705.5
Acceso en línea:https://doaj.org/article/b8472fcb5ccb418dbbcf2bcd565a772b
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