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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...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Hindawi
2019
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Materias: | |
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 |