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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 (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, 158A(4):927-931.

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Item Type:Journal Article, refereed, further contribution
Communities & Collections:04 Faculty of Medicine > University Children's Hospital Zurich > Medical Clinic
Dewey Decimal Classification:610 Medicine & health
Language:English
Date:April 2012
Deposited On:20 Feb 2013 13:26
Last Modified:05 Apr 2016 16:31
Publisher:Wiley-Blackwell
ISSN:1552-4825
Publisher DOI:https://doi.org/10.1002/ajmg.a.35231
PubMed ID:22411858

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