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Wiener Medizinische Wochenschrift
Erschienen in:

01.07.2015 | main topic

Classification of osteogenesis imperfecta

verfasst von: Dr. Nadja Fratzl-Zelman, PhD, Dr. Barbara M. Misof, PhD, Dr. Paul Roschger, PhD, Univ.- Prof. Dr. Klaus Klaushofer, MD

Erschienen in: Wiener Medizinische Wochenschrift | Ausgabe 13-14/2015

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Summary

Osteogenesis imperfecta (OI) is an extremely heterogeneous group of heritable connective tissue disorders. Most of the affected patients carry autosomal dominant mutations in the genes encoding for collagen type I, the most abundant protein of the bone extracellular matrix. The resulting phenotypes are extremely broad and have been classified by Sillence and colleagues into four groups according to clinical, radiological and genetic criteria.
More recently, proteins have been described that interact directly or indirectly with collagen biosynthesis and their deficiency result in rare forms of mostly autosomal recessive OI sharing phenotypic features of ‘classical’ types but lacking primary defects in type I collagen. Consequently the Sillence classification has been gradually expanded to include novel forms based on the underlying mutations. The goal of this article is to revisit the actual OI classification and to outline current approaches in categorizing the disorder.
Vorheriger Artikel Osteogenesis imperfecta: from bench to bedside
Nächster Artikel Bone mass and mineralization in osteogenesis imperfecta
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Metadaten
Titel
Classification of osteogenesis imperfecta
verfasst von
Dr. Nadja Fratzl-Zelman, PhD
Dr. Barbara M. Misof, PhD
Dr. Paul Roschger, PhD
Univ.- Prof. Dr. Klaus Klaushofer, MD
Publikationsdatum
01.07.2015
Verlag
Springer Vienna
Erschienen in
Wiener Medizinische Wochenschrift / Ausgabe 13-14/2015
Print ISSN: 0043-5341
Elektronische ISSN: 1563-258X
DOI
https://doi.org/10.1007/s10354-015-0368-3

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