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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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Detalles Bibliográficos
Autores principales:	Jiang, Yi, Ouyang, Jiamin, Li, Xueqing, Wang, Yingwei, Zhou, Lin, Li, Shiqiang, Jia, Xiaoyun, Xiao, Xueshan, Sun, Wenmin, Wang, Panfeng, Zhang, Qingjiong
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2021
Materias:	Cell and Developmental Biology
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8672680/ https://www.ncbi.nlm.nih.gov/pubmed/34926457 http://dx.doi.org/10.3389/fcell.2021.769636

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