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Expanding the clinical and molecular spectrum of ATP6V1A related metabolic cutis laxa.
Guido Vogt, Naji El Choubassi, Ágnes Herczegfalvi, Heike Kölbel, Anja Lekaj, Ulrike Schara, Manuel Holtgrewe, Sabine Krause, Rita Horvath, Markus Schuelke, Christoph Hübner, Stefan Mundlos, Andreas Roos, Hanns Lochmüller, Veronika Karcagi, Uwe Kornak, Björn Fischer-Zirnsak
Jul 28, 2021
Several inborn errors of metabolism show cutis laxa as a highly recognizable feature. One group of these metabolic cutis laxa conditions is autosomal recessive cutis laxa type 2 caused by defects in v-ATPase components or the...
ATP6V1A Golgi Apparatus autosomal recessive cutis laxa hypotonia progeroid features V-ATPase Adolescent Alleles Case-Control Studies cutis laxa FIBROBLASTS Golgi Apparatus Humans Infant Infant Newborn Intellectual Disability Male Mutation Missense Pedigree Phenotype Vacuolar Proton-Translocating ATPases