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.