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 journalLetterpeer-review

25 Scopus citations
Original languageEnglish (US)
Pages (from-to)927-931
Number of pages5
JournalAmerican Journal of Medical Genetics, Part A
Volume158 A
Issue number4
StatePublished - Apr 2012

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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