Article

North Carolina macular dystrophy: phenotypic variability and computational analysis of disease-implicated non-coding variants

2021-03-08

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Purpose</h4> 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-implicated variants. <h4>Methods</h4> Clinical assessment and genetic testing were performed. Pub...

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Literature Corpus work: 865564a5-87a4-5491-aaec-9c38cae2cc9f
DOI: 10.1101/2021.03.05.21252975

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