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 |
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Communities & Collections: | 04 Faculty of Medicine > University Children's Hospital Zurich > Medical Clinic |
Dewey Decimal Classification: | 610 Medicine & health |
Scopus Subject Areas: | Life Sciences > Genetics
Health Sciences > Genetics (clinical) |
Language: | English |
Date: | April 2012 |
Deposited On: | 20 Feb 2013 13:26 |
Last Modified: | 24 Jan 2022 00:00 |
Publisher: | Wiley-Blackwell |
ISSN: | 1552-4825 |
OA Status: | Closed |
Publisher DOI: | https://doi.org/10.1002/ajmg.a.35231 |
PubMed ID: | 22411858 |
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Authors, Affiliations, Collaborations
Università degli Studi di Roma Tor Vergata, Rome, Italy
Università degli Studi di Roma La Sapienza, Rome, Italy
Charité – Universitätsmedizin Berlin, Berlin, Germany
Università degli Studi di Modena e Reggio Emilia, Modena, Italy
Azienda Ospedaliera Santa Maria Nuova di Reggio Emilia, Reggio Emilia, Italy
IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy
IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy
Università degli Studi di Roma La Sapienza, Rome, Italy
Università degli Studi di Roma La Sapienza, Rome, Italy
Azienda Ospedaliera Santa Maria Nuova di Reggio Emilia, Reggio Emilia, Italy
Alma Mater Studiorum Università di Bologna, Bologna, Italy
Alma Mater Studiorum Università di Bologna, Bologna, Italy
Radboud University Nijmegen Medical Centre, Nijmegen, Netherlands
Università degli Studi di Roma La Sapienza, Rome, Italy
Kinderspital Zürich, Zurich, Switzerland
Charité – Universitätsmedizin Berlin, Berlin, Germany
Max Planck Institute for Molecular Genetics, Berlin, Germany
Max Planck Institute for Molecular Genetics, Berlin, Germany

Università degli Studi di Roma Tor Vergata, Rome, Italy
IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy
IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy