• Am. J. Med. Genet. A · Apr 2012

    Case Reports

    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, and Francesco Brancati.
    • Department of Biopathology and Diagnostic Imaging, Tor Vergata University, Rome, Italy.
    • Am. J. Med. Genet. A. 2012 Apr 1; 158A (4): 927-31.

    no abstract available

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