Homozygous Variant in ARL3 Causes Autosomal Recessive Cone Rod Dystrophy

PURPOSE: Cone rod dystrophy (CRD) is a group of inherited retinopathies characterized by the loss of cone and rod photoreceptor cells, which results in poor vision. This study aims to clinically and genetically characterize the segregating CRD phenotype in two large, consanguineous Pakistani familie...

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Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Invest Ophthalmol Vis Sci
Egile Nagusiak: Sheikh, Shakeel A., Sisk, Robert A., Schiavon, Cara R., Waryah, Yar M., Usmani, Muhammad A., Steel, David H., Sayer, John A., Narsani, Ashok K., Hufnagel, Robert B., Riazuddin, Saima, Kahn, Richard A., Waryah, Ali M., Ahmed, Zubair M.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: The Association for Research in Vision and Ophthalmology 2019
Gaiak:
Retina
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC6944245/
https://ncbi.nlm.nih.gov/pubmed/31743939
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1167/iovs.19-27263
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