Article
Autosomal-dominant myopia associated to a novel P4HA2 missense variant and defective collagen hydroxylation.
Clinical genetics - 1 May 2018
Napolitano F, Di Iorio V, Testa F, Tirozzi A, Reccia M G, Lombardi L, Farina O, Simonelli F, Gianfrancesco F, Di Iorio G, Melone M A B, Esposito T, Sampaolo S
Abstract excerpt
We recently described a complex multisystem syndrome in which mild-moderate myopia segregated as an independent trait. A plethora of genes has been related to sporadic and familial myopia. More recently, in Chinese patients severe myopia (MYP25, OMIM:617238) has been linked to mutations in P4HA2 gene. Seven family members complaining of reduced distance vision especially at dusk underwent complete...
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