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Bruck syndrome: osteogenesis imperfecta and arthrogryposis multiplex congenita
Authors: Yapicioğlu, H.1; Özcan, K.1; Arikan, Ö1; Satar, M.1; Narli, N.1; Özbek, M. H.2
Source: Annals of Tropical Paediatrics: International Child Health, Volume 29, Number 2, June 2009 , pp. 159-162(4)
Publisher: Maney Publishing
Abstract:
Bruck syndrome is characterised by osteogenesis imperfecta and arthrogryposis multiplex. In some patients, mutations in the lysyl hydroxylase 2 gene (PLOD2, 3q23–q24) have been demonstrated. A male newborn with Bruck syndrome is reported.Document Type: Case Report
DOI: http://dx.doi.org/10.1179/146532809X440798
Affiliations: 1: Division of Neonatology, Department of Pediatrics, Faculty of Medicine, Çukurova University, Adana, Turkey 2: Division of Endocrinology & Metabolism, Department of Pediatrics, Faculty of Medicine, Çukurova University, Adana, Turkey
Publication date: 2009-06-01
- In 2012 Annals of Tropical Paediatrics changed its name to Paediatrics and International Child Health to reflect changes and developments in the subject area. View the issues of Paediatrics and International Child Health available online.
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- In this Subject: Internal Medicine , Pediatrics
- By this author: Yapicioğlu, H. ; Özcan, K. ; Arikan, Ö ; Satar, M. ; Narli, N. ; Özbek, M. H.
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