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Article

Mutations in PYCR1 gene in three families with autosomal recessive cutis laxa, type 2.

European journal of medical genetics - 1 Jun 2013

Scherrer D Z, Baptista M B, Matos A H B, Maurer-Morelli C V, Steiner C E

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Topics

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Share to Abnormalities, Multiple
Share to Child, Preschool
Share to Cutis Laxa
Share to Genes, Recessive

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 23531708
DOI: 10.1016/j.ejmg.2013.03.006

Genes

PYCR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutations in PYCR1 gene in three families with autosomal recessive cutis laxa, type 2.PMID 23531708Read ↗

A novel mutation in PYCR1 causes an autosomal recessive cutis laxa with premature aging features in a family.Semantic proximity Read ↗

Clinical and molecular characterization of a 13-year-old Indian boy with cutis laxa type 2B: Identification of two novel PYCR1 mutations by amplicon-based semiconductor exome sequencing.Semantic proximity Read ↗

Novel compound-heterozygous variants in PYCR1 broaden the mutation spectrum of autosomal-recessive cutis laxaSemantic proximity Read ↗

Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa.Semantic proximity Read ↗

Confirming the enzymatic activity and neurodevelopmental trajectory of PYCR1 mutation in one child with autosomal-recessive cutis laxa type 2.Semantic proximity Read ↗

Mutation in pyrroline-5-carboxylate reductase 1 gene in families with cutis laxa type 2.Semantic proximity Read ↗

[Autosomal recessive cutis laxa: New genes identified].Semantic proximity Read ↗

Mutations in PYCR1 cause cutis laxa with progeroid features.Semantic proximity Read ↗

Autosomal recessive cutis laxa type IIIA: Report of a patient with severe phenotype and review of the literature.Semantic proximity Read ↗

Defect in proline synthesis: pyrroline-5-carboxylate reductase 1 deficiency leads to a complex clinical phenotype with collagen and elastin abnormalities.Semantic proximity Read ↗

The phenotype caused by PYCR1 mutations corresponds to geroderma osteodysplasticum rather than autosomal recessive cutis laxa type 2.Semantic proximity Read ↗

Compound heterozygous mutations in PYCR1 further expand the phenotypic spectrum of De Barsy syndrome.Semantic proximity Read ↗

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