Article
[Molecular genetics in diagnosis of Coats disease: combination of oligogenic variants associated with different forms of hereditary retinal dystrophy].
Vestnik oftalmologii - 1 Jan 2023
Vasilyeva T A, Kadyshev V V, Marakhonov A V, Kanivets I V, Korostelev S A, Koshkin P A, Pyankov D V, Petrova N V, Kutsev S I, Zinchenko R A
Abstract excerpt
Coats disease (OMIM 300216) is a form of hereditary retinal dystrophy, which occurs due to congenital abnormality of retinal vessels and features unilateral exudative vitreoretinopathy. Coats disease mostly occurs sporadically; its genetic cause is still undetermined. Molecular genetic research including whole exome sequencing by the NGS method was used to define a genetic cause of the observed phenotype. Two...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.