Associated Papers
Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis.
Guerrini R et al.
Brain : a Journal of Neurology, 2022
Expanding the clinical and molecular spectrum of ATP6V1A related metabolic cutis laxa.
Vogt G et al.
Journal of Inherited Metabolic Disease, 2021
Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa.
Van Damme T et al.
American Journal of Human Genetics, 2017
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