A Cohesin Subunit Variant Identified from a Peripheral Sclerocornea Pedigree

BACKGROUND: Sclerocornea is a rare congenital disorder characterized with the opacification of the cornea. Here, we report a nonconsanguineous Chinese family with multiple peripheral sclerocornea patients spanning across three generations inherited in an autosomal dominant manner. METHODS: This is a...

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Detalles Bibliográficos
Autores principales: Zhang, Bi Ning, Chan, Tommy Chung Yan, Tam, Pancy Oi Sin, Liu, Yu, Pang, Chi Pui, Jhanji, Vishal, Chen, Li Jia, Chu, Wai Kit
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2019
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6875196/
https://www.ncbi.nlm.nih.gov/pubmed/31781308
http://dx.doi.org/10.1155/2019/8781524

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