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

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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
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  Data: Severe osteogenesis imperfecta due to homozygous glycine substitutions in COL1A1 and COL1A2.
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  Data: <searchLink fieldCode="AU" term="%22Blaschitz+A%22">Blaschitz A</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Montero-Lopez+R%22">Montero-Lopez R</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22El-Sobky+TA%22">El-Sobky TA</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Baraka+MM%22">Baraka MM</searchLink>; Division of Paediatric Orthopedics, Department of Orthopedic Surgery, Faculty of Medicine, Ain-Shams University, 1181 Cairo, Egypt.<br /><searchLink fieldCode="AU" term="%22Abdulhady+H%22">Abdulhady H</searchLink>; Department of Physical Medicine & Rheumatology and Rehabilitation, Faculty of Medicine, Ain Shams University, 1181 Cairo, Egypt.<br /><searchLink fieldCode="AU" term="%22Dawoud+H%22">Dawoud H</searchLink>; Department of Paediatrics, Faculty of Medicine, Tanta University, 31527 Tanta, Egypt.<br /><searchLink fieldCode="AU" term="%22Mobarak+A%22">Mobarak A</searchLink>; Department of Paediatrics, Faculty of Medicine, Tanta University, 31527 Tanta, Egypt.<br /><searchLink fieldCode="AU" term="%22El-Sayed+MMH%22">El-Sayed MMH</searchLink>; Department of Orthopedic Surgery, Faculty of Medicine, Tanta University, 31527 Tanta, Egypt.<br /><searchLink fieldCode="AU" term="%22Hammad+ME%22">Hammad ME</searchLink>; Department of Orthopedic Surgery, Faculty of Medicine, Tanta University, 31527 Tanta, Egypt.<br /><searchLink fieldCode="AU" term="%22Webersinke+G%22">Webersinke G</searchLink>; Laboratory for Molecular Genetic Diagnostics, Ordensklinikum Linz, 4020 Linz, Austria.<br /><searchLink fieldCode="AU" term="%22Malli+T%22">Malli T</searchLink>; Laboratory for Molecular Genetic Diagnostics, Ordensklinikum Linz, 4020 Linz, Austria.<br /><searchLink fieldCode="AU" term="%22Högler+W%22">Högler W</searchLink>; 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.
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  Data: <searchLink fieldCode="JN" term="%229423848%22">European journal of endocrinology</searchLink> [Eur J Endocrinol] 2026 Apr 06; Vol. 194 (4), pp. 544-554.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Oxford+University+Press%22">Oxford University Press </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>9423848 <i>Publication Model: </i>Print <i>Cited Medium: </i>Internet <i>ISSN: </i>1479-683X (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2208044643%22">08044643 </searchLink><i>NLM ISO Abbreviation: </i>Eur J Endocrinol <i>Subsets: </i>MEDLINE
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              Text: 2026 Apr 06
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