Novel mutation in the CHST6 gene causes macular corneal dystrophy in a black South African family

BACKGROUND: Macular corneal dystrophy (MCD) is a rare autosomal recessive disorder that is characterized by progressive corneal opacity that starts in early childhood and ultimately progresses to blindness in early adulthood. The aim of this study was to identify the cause of MCD in a black South Af...

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Detalhes bibliográficos
Publicado no:BMC Med Genet
Main Authors: Carstens, Nadia, Williams, Susan, Goolam, Saadiah, Carmichael, Trevor, Cheung, Ming Sin, Büchmann-Møller, Stine, Sultan, Marc, Staedtler, Frank, Zou, Chao, Swart, Peter, Rice, Dennis S., Lacoste, Arnaud, Paes, Kim, Ramsay, Michèle
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2016
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4955246/
https://ncbi.nlm.nih.gov/pubmed/27439461
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-016-0308-0
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