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Cysteine Substitution and Calcium-Binding Mutations in FBN1 cbEGF-Like Domains Are Associated With Severe Ocular Involvement in Patients With Congenital Ectopia Lentis

Purpose: To investigate the clinical manifestations of congenital ectopia lentis (CEL) in patients with fibrillin (FBN1) calcium-binding epidermal growth factor (cbEGF)-like mutations. Design: Retrospective cohort study. Methods: Consecutive 68 CEL probands with FBN1 cbEGF-like mutations were recrui...

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Detalles Bibliográficos
Autores principales:	Zhang, Min, Chen, Zexu, Chen, Tianhui, Sun, Xiaodong, Jiang, Yongxiang
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2022
Materias:	Cell and Developmental Biology
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8882981/ https://www.ncbi.nlm.nih.gov/pubmed/35237611 http://dx.doi.org/10.3389/fcell.2021.816397

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