Visual impairment and progressive phthisis bulbi caused by recessive pathogenic variant in MARK3

Developmental eye defects often severely reduce vision. Despite extensive efforts, for a substantial fraction of these cases the molecular causes are unknown. Recessive eye disorders are frequent in consanguineous populations and such large families with multiple affected individuals provide an oppo...

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Detalhes bibliográficos
Publicado no:Hum Mol Genet
Main Authors: Ansar, Muhammad, Chung, Hyunglok, Waryah, Yar M, Makrythanasis, Periklis, Falconnet, Emilie, Rao, Ali Raza, Guipponi, Michel, Narsani, Ashok K, Fingerhut, Ralph, Santoni, Federico A, Ranza, Emmanuelle, Waryah, Ali M, Bellen, Hugo J, Antonarakis, Stylianos E
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2018
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Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6048992/
https://ncbi.nlm.nih.gov/pubmed/29771303
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddy180
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