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Severe osteogenesis imperfecta caused by a small in-frame deletion in CRTAP

โœ Scribed by I.M. Ben Amor; F. Rauch; K. Gruenwald; M. Weis; D.R. Eyre; P. Roughley; F.H. Glorieux; R. Morello


Publisher
John Wiley and Sons
Year
2011
Tongue
English
Weight
294 KB
Volume
155
Category
Article
ISSN
1552-4825

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In osteogenesis imperfecta (01) the effects of mutations in type I collagen genes generally reflect their nature and localization. Unrelated individuals sharing identical mutations present, in general, similar clinical phenotypes. However, in some such cases the clinical phenotype differs. This vari