Associated Papers
A novel intronic variant of ATP6V0A2-related cutis laxa with impaired cognitive function.
Xue S et al.
Pediatrics and Neonatology, 2024
Review of clinical and molecular variability in autosomal recessive cutis laxa 2A.
Morlino S et al.
American Journal of Medical Genetics. Part A, 2021
Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa.
Gardeitchik T et al.
European Journal of Human Genetics : Ejhg, 2014
Further characterization of ATP6V0A2-related autosomal recessive cutis laxa.
Fischer B et al.
Human Genetics, 2012
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