title: Mutations in PYCR1 gene in three families with autosomal recessive cutis laxa, type 2.
authors.forename: D Z
authors.initials: DZ
authors.lastname: Scherrer
authors.forename: M B
authors.initials: MB
authors.lastname: Baptista
authors.forename: A H B
authors.initials: AH
authors.lastname: Matos
authors.forename: C V
authors.initials: CV
authors.lastname: Maurer-Morelli
authors.forename: C E
authors.initials: CE
authors.lastname: Steiner
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics; D002675:Child, Preschool; D003483:Cutis Laxa / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D011762:Pyrroline Carboxylate Reductases / Q000235:genetics*; D000097502:delta-1-Pyrroline-5-Carboxylate Reductase
chemical_list: D011762:Pyrroline Carboxylate Reductases; D000097502:delta-1-Pyrroline-5-Carboxylate Reductase