Article
Structural and functional analysis of retinal vasculature in HANAC syndrome with a novel intronic COL4A1 mutation.
Microvascular research - 1 Jan 2023
Faure Céline, Castrale Cindy, Benabed Anaïs, Cognard Pauline, Lezé Romain, Castro-Farias Daniela, Gérard Marion, Louapre Céline, Paques Michel
Abstract excerpt
PURPOSE: Mutations of the COL4A1 gene, a major structural protein of vessels, may cause hereditary angiopathy with nephropathy, aneurysms and muscle cramps (HANAC) syndrome. The vascular structure and function of patients with HANAC is poorly known. Here, we report a family with HANAC syndrome associated to a previously unreported mutation in COL4A1. The structure and function of retinal vessels were detailed by...
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