Article
Deep intronic variant in MVK as a cause for mevalonic aciduria initially presenting as non-syndromic retinitis pigmentosa.
Clinical genetics - 1 Dec 2022
Dvaladze Anna, Tavares Erika, Di Scipio Matteo, Nimmo Graeme, Grudzinska-Pechhacker Monika K, Paton Tara, Tumber Anupreet, Li Shuning, Eileen Christabel, Ertl-Wagner Birgit, Mamak Eva, Hoffmann Georg, Marshall Christian R, Haas Dorothea, Mayatepek Ertan, Schulze Andreas, Heon Elise, Vincent Ajoy
Abstract excerpt
Non-syndromic retinitis pigmentosa (NSRP) is a clinically and genetically heterogeneous group of disorders characterized by progressive degeneration of the rod and cone photoreceptors, often leading to blindness. The evolving association of syndromic genes to cause NSRP and the increasing role of intronic variants in explaining missing heritability in genetic disorders present challenges in establishing...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.