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.