title: De Barsy Syndrome: a genetically heterogeneous autosomal recessive cutis laxa syndrome related to P5CS and PYCR1 dysfunction.
authors.affiliation: Department of Biopathology and Diagnostic Imaging, Tor Vergata University, Rome, Italy.
authors.forename: Stefania
authors.initials: S
authors.lastname: Zampatti
authors.forename: Marco
authors.initials: M
authors.lastname: Castori
authors.forename: Bjoern
authors.initials: B
authors.lastname: Fischer
authors.forename: Paola
authors.initials: P
authors.lastname: Ferrari
authors.forename: Livia
authors.initials: L
authors.lastname: Garavelli
authors.forename: Carlo
authors.initials: C
authors.lastname: Dionisi-Vici
authors.forename: Emanuele
authors.initials: E
authors.lastname: Agolini
authors.forename: Anita
authors.initials: A
authors.lastname: Wischmeijer
authors.forename: Eva
authors.initials: E
authors.lastname: Morava
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Novelli
authors.forename: Johannes
authors.initials: J
authors.lastname: Häberle
authors.forename: Uwe
authors.initials: U
authors.lastname: Kornak
authors.forename: Francesco
authors.initials: F
authors.lastname: Brancati
mesh_terms: D002648:Child; D002675:Child, Preschool; D003318:Corneal Opacity / Q000151:congenital / Q000201:enzymology / Q000235:genetics*; D003483:Cutis Laxa / Q000151:congenital* / Q000201:enzymology / Q000235:genetics; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000201:enzymology / Q000235:genetics*; D008297:Male; 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