Expanding the Spectrum of Neurological Manifestations in Cutis Laxa, Autosomal Recessive, Type IIIA

We describe a 13-month-old patient with cutis laxa, autosomal recessive, type IIIA, with an extremely severe phenotype, including novel neurological findings. This description enlarges the neurological spectrum associated to cutis laxa, autosomal recessive, type IIIA, and provides an additional description of this syndrome. [...] Georg Thieme Verlag KG Stuttgart · New YorkArticle in Thieme eJournals: Table of contents  |  Abstract  |  Full text

Source: Neuropediatrics - March 5, 2020 Category: Neurology Authors: Angelini, Chlo é Thibaud, Marie Aladjidi, Nathalie Bessou, Pierre Cabasson, S ébastien Colson, Cindy Espil-Taris, Caroline Goizet, Cyril Husson, Marie Morice-Picard, Fanny De Sandre-Giovannoli, Annachiara P édespan, Jean-Michel Tags: Original Article Source Type: research