Macular corneal dystrophy related to novel mutations of CHST6 in a Chinese family and clinical observation after penetrating keratoplasty

BACKGROUND: Macular corneal dystrophy (MCD) is a rare corneal stromal dystrophy with bilateral progressive vision loss. The pathogenic gene of MCD is carbohydrate sulfotransferase 6 (CHST6). Herein, we report a novel missense mutation and a rare exon deletion mutation in the CHST6 gene in a Chinese...

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Detalles Bibliográficos
Autores principales: Li, Dewei, Tian, Le, Wang, Xiaochuan, Chen, Min
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8513235/
https://www.ncbi.nlm.nih.gov/pubmed/34645431
http://dx.doi.org/10.1186/s12920-021-01095-7

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