Condition: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB
rs121918378
in
PYCR1
gene and
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB
PMID 22052856
2011 Compound heterozygous mutations in PYCR1 further expand the phenotypic spectrum of De Barsy syndrome.
PMID 19648921
2009 Mutations in PYCR1 cause cutis laxa with progeroid features.