Publications

Reversade et al. Mutations in PYCR1 cause cutis laxa with progeroid features.Nature Genetics. 2009;41(9):1016–21. PMID: 19648921.

Guernsey et al. Mutation in pyrroline 5 carboxylate reductase 1 gene in families with cutis laxa type 2.American Journal of Human Genetics. 2009;85(1):120–9. PMID: 19576563.

Lin et al. A novel mutation in PYCR1 causes an autosomal recessive cutis laxa with premature aging features in a family.American Journal of Medical Genetics A. 2011;155A(6):1285-9. PMID: 21567914.

Lin et al. Compound heterozygous mutations in PYCR1 further expand the phenotypic spectrum of De Barsy syndrome.American Journal of Medical Genetics Part A. 2011 Dec;155A(12):3095-3099. PMID: 22052856.

Kretz et al. Defect in proline synthesis: Pyrroline 5 carboxylate reductase 1 deficiency leads to a complex clinical phenotype with collagen and elastin abnormalities.Journal of Inherited Metabolic Disease. 2011;34(3):731-9. PMID: 21487760.

Dimopoulou et al. Genotype phenotype spectrum of PYCR1 related autosomal recessive cutis laxa.Molecular Genetics and Metabolism. 2013;110(3):352–61. PMID: 24035636.

Scherrer et al. Mutations in PYCR1 gene in three families with autosomal recessive cutis laxa, type 2.European Journal of Medical Genetics. 2013 Jun;56(6):336-9. PMID: 23531708.

Shangguan et al. Confirming the enzymatic activity and neurodevelopmental trajectory of PYCR1 mutation in one child with autosomal recessive cutis laxa type 2.Molecular Genetics & Genomics. 2024;299:81. PMID: 39172257.