Novel compound heterozygous mutations in the CHST6 gene cause macular corneal dystrophy in a Han Chinese family

BACKGROUND: Macular corneal dystrophy (MCD), a rare autosomal recessive disorder, is caused by pathogenic mutations in the carbohydrate sulfotransferase 6 gene (CHST6) and is characterized by bilateral progressive stromal clouding and vision loss. Corneal transplantation is often necessary. This stu...

Descripción completa

Detalles Bibliográficos
Autores principales: Huang, Yanxia, Yuan, Lamei, Cao, Yanna, Tang, Renhong, Xu, Hongbo, Tang, Ziqian, Deng, Hao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: AME Publishing Company 2021
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8106006/
https://www.ncbi.nlm.nih.gov/pubmed/33987320
http://dx.doi.org/10.21037/atm-20-7178

Ejemplares similares

Ejemplares similares