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 journalArticle

Original languageEnglish
Pages (from-to)927-931
Number of pages5
JournalAmerican Journal of Medical Genetics, Part A
Volume158 A
Issue number4
DOIs
Publication statusPublished - Apr 2012

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

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