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De Barsy Syndrome: a genetically heterogeneous autosomal recessive cutis laxa syndrome related to P5CS and PYCR1 dysfunction.
Zampatti, Stefania; Castori, Marco; Fischer, Bjoern; Ferrari, Paola; Garavelli, Livia; Dionisi-Vici, Carlo; Agolini, Emanuele; Wischmeijer, Anita; Morava, Eva; Novelli, Giuseppe; Häberle, Johannes; Kornak, Uwe; Brancati, Francesco.
Affiliation
  • Zampatti S; Department of Biopathology and Diagnostic Imaging, Tor Vergata University, Rome, Italy.
Am J Med Genet A ; 158A(4): 927-31, 2012 Apr.
Article in En | MEDLINE | ID: mdl-22411858
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Pyrroline Carboxylate Reductases / Corneal Opacity / Cutis Laxa / Intellectual Disability Limits: Child / Child, preschool / Female / Humans / Male Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2012 Document type: Article Affiliation country: Country of publication:
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Pyrroline Carboxylate Reductases / Corneal Opacity / Cutis Laxa / Intellectual Disability Limits: Child / Child, preschool / Female / Humans / Male Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2012 Document type: Article Affiliation country: Country of publication: