De Barsy Syndrome: A genetically heterogeneous autosomal recessive cutis laxa syndrome related to P5CS and PYCR1 dysfunction

Stefania Zampatti; Marco Castori; Bjoern Fischer; Paola Ferrari; Livia Garavelli; Carlo Dionisi-Vici; Emanuele Agolini; Anita Wischmeijer; Eva Morava; Giuseppe Novelli; Johannes Häberle; Uwe Kornak; Francesco Brancati

doi:10.1002/ajmg.a.35231

De Barsy Syndrome: A genetically heterogeneous autosomal recessive cutis laxa syndrome related to P5CS and PYCR1 dysfunction

Stefania Zampatti, Marco Castori, Bjoern Fischer, Paola Ferrari, Livia Garavelli, Carlo Dionisi-Vici, Emanuele Agolini, Anita Wischmeijer, Eva Morava, Giuseppe Novelli, Johannes Häberle, Uwe Kornak, Francesco Brancati

Research output: Contribution to journal › Article › peer-review

Original language	English
Pages (from-to)	927-931
Number of pages	5
Journal	American Journal of Medical Genetics, Part A
Volume	158 A
Issue number	4
DOIs	https://doi.org/10.1002/ajmg.a.35231
Publication status	Published - Apr 2012

ASJC Scopus subject areas

Genetics(clinical)
Genetics

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Zampatti, S., Castori, M., Fischer, B., Ferrari, P., Garavelli, L., Dionisi-Vici, C., Agolini, E., Wischmeijer, A., Morava, E., Novelli, G., Häberle, J., Kornak, U., & Brancati, F. (2012). De Barsy Syndrome: A genetically heterogeneous autosomal recessive cutis laxa syndrome related to P5CS and PYCR1 dysfunction. American Journal of Medical Genetics, Part A, 158 A(4), 927-931. https://doi.org/10.1002/ajmg.a.35231

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.

In: American Journal of Medical Genetics, Part A, Vol. 158 A, No. 4, 04.2012, p. 927-931.

Research output: Contribution to journal › Article › peer-review

Zampatti, S, Castori, M, Fischer, B, Ferrari, P, Garavelli, L , Dionisi-Vici, C, Agolini, E, Wischmeijer, A, Morava, E, Novelli, G, Häberle, J, Kornak, U & Brancati, F 2012, 'De Barsy Syndrome: A genetically heterogeneous autosomal recessive cutis laxa syndrome related to P5CS and PYCR1 dysfunction', American Journal of Medical Genetics, Part A, vol. 158 A, no. 4, pp. 927-931. https://doi.org/10.1002/ajmg.a.35231

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. / De Barsy Syndrome : A genetically heterogeneous autosomal recessive cutis laxa syndrome related to P5CS and PYCR1 dysfunction. In: American Journal of Medical Genetics, Part A. 2012 ; Vol. 158 A, No. 4. pp. 927-931.

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De Barsy Syndrome: A genetically heterogeneous autosomal recessive cutis laxa syndrome related to P5CS and PYCR1 dysfunction

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