Condition: Cutis Laxa
rs1557196978 in
ATP6AP1 gene and
Cutis Laxa
PMID 29396028 2018 Cutis laxa, exocrine pancreatic insufficiency and altered cellular metabolomics as additional symptoms in a new patient with ATP6AP1-CDG.
rs121918374 in
PYCR1 gene and
Cutis Laxa
PMID 26516448 2015 Congenital Cutis Laxa Type 2 Associated With Recurrent Aspiration Pneumonia and Growth Delay: Case Report.
PMID 19576563 2009 Mutation in pyrroline-5-carboxylate reductase 1 gene in families with cutis laxa type 2.
PMID 19648921 2009 Mutations in PYCR1 cause cutis laxa with progeroid features.
PMID 24035636 2013 Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa.