Condition: Cutis Laxa, Autosomal Recessive, Type IIB


rs121918374 in PYCR1 gene and Cutis Laxa, Autosomal Recessive, Type IIB PMID 19648921 2009 Mutations in PYCR1 cause cutis laxa with progeroid features.

PMID 19576563 2009 Mutation in pyrroline-5-carboxylate reductase 1 gene in families with cutis laxa type 2.