Childhood Osteoporosis and Presentation of Two Cases with Osteogenesis Imperfecta Type V / Osteoporoza V Otroški Dobi in Predstavitev Dveh Bolnikov Z Osteogenesis Imperfecta Tipa V

Uvod. Osteogenesis imperfecta (OI) je vzročno heterogena bolezen, katere značilnost je osteoporoza v otroštvu. Pri vseh opisanih bolnikih s podtipom OI tipa V je vzrok bolezni ista mutacija c.-14C>T gena IFITM5. Kljub temu med bolniki obstaja izrazita fenotipska variabilnost v klinični sliki,...

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Main Authors: Bratanic Nina (Author), Dzodan Bojana (Author), Trebusak Podkrajsek Katarina (Author), Bertok Sara (Author), Ostanek Barbara (Author), Marc Janja (Author), Battelino Tadej (Author), Avbelj Stefanija Magdalena (Author)
Format: Book
Published: Sciendo, 2015-03-01T00:00:00Z.
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3rd Floor Main Library

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Call Number: A1234.567
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