North Carolina Macular Dystrophy: Phenotypic Variability and Computational Analysis of Disease-Associated Noncoding Variants

PURPOSE: North Carolina macular dystrophy (NCMD) is an autosomal dominant, congenital disorder affecting the central retina. Here, we report clinical and genetic findings in three families segregating NCMD and use epigenomic datasets from human tissues to gain insights into the effect of NCMD-implic...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Invest Ophthalmol Vis Sci
Egile Nagusiak: Green, David J., Lenassi, Eva, Manning, Cerys S., McGaughey, David, Sharma, Vinod, Black, Graeme C., Ellingford, Jamie M., Sergouniotis, Panagiotis I.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: The Association for Research in Vision and Ophthalmology 2021
Gaiak:
Retina
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC8212441/
https://ncbi.nlm.nih.gov/pubmed/34125159
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1167/iovs.62.7.16
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