Severe osteogenesis imperfecta due to homozygous glycine substitutions in COL1A1 and COL1A2.

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Bibliographic Details
Title: Severe osteogenesis imperfecta due to homozygous glycine substitutions in COL1A1 and COL1A2.
Authors: Blaschitz A; Department of Paediatrics and Adolescent Medicine, Johannes Kepler University Linz, 4020 Linz, Austria.; Centre for Growth and Osteology, Department of Paediatrics and Adolescent Medicine, Kepler University Hospital GmbH, 4020 Linz, Austria., Montero-Lopez R; Department of Paediatrics and Adolescent Medicine, Johannes Kepler University Linz, 4020 Linz, Austria.; Centre for Growth and Osteology, Department of Paediatrics and Adolescent Medicine, Kepler University Hospital GmbH, 4020 Linz, Austria., El-Sobky TA; Division of Paediatric Orthopedics, Department of Orthopedic Surgery, Faculty of Medicine, Ain-Shams University, 1181 Cairo, Egypt.; Surgical-based Department, Orthopedic Unit, Faculty of Medicine, Universiti Kuala Lumpur, Royal College of Medicine Perak, 30450 Ipoh, Malaysia., Baraka MM; Division of Paediatric Orthopedics, Department of Orthopedic Surgery, Faculty of Medicine, Ain-Shams University, 1181 Cairo, Egypt., Abdulhady H; Department of Physical Medicine & Rheumatology and Rehabilitation, Faculty of Medicine, Ain Shams University, 1181 Cairo, Egypt., Dawoud H; Department of Paediatrics, Faculty of Medicine, Tanta University, 31527 Tanta, Egypt., Mobarak A; Department of Paediatrics, Faculty of Medicine, Tanta University, 31527 Tanta, Egypt., El-Sayed MMH; Department of Orthopedic Surgery, Faculty of Medicine, Tanta University, 31527 Tanta, Egypt., Hammad ME; Department of Orthopedic Surgery, Faculty of Medicine, Tanta University, 31527 Tanta, Egypt., Webersinke G; Laboratory for Molecular Genetic Diagnostics, Ordensklinikum Linz, 4020 Linz, Austria., Malli T; Laboratory for Molecular Genetic Diagnostics, Ordensklinikum Linz, 4020 Linz, Austria., Högler W; Department of Paediatrics and Adolescent Medicine, Johannes Kepler University Linz, 4020 Linz, Austria.; Centre for Growth and Osteology, Department of Paediatrics and Adolescent Medicine, Kepler University Hospital GmbH, 4020 Linz, Austria.
Source: European journal of endocrinology [Eur J Endocrinol] 2026 Apr 06; Vol. 194 (4), pp. 544-554.
Publication Type: Journal Article; Case Reports
Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 9423848 Publication Model: Print Cited Medium: Internet ISSN: 1479-683X (Electronic) Linking ISSN: 08044643 NLM ISO Abbreviation: Eur J Endocrinol Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1479-683X
DOI:10.1093/ejendo/lvag064