Article
Non-Lethal Type VIII Osteogenesis Imperfecta Has Elevated Bone Matrix Mineralization.
The Journal of clinical endocrinology and metabolism - 1 Sept 2016
Fratzl-Zelman Nadja, Barnes Aileen M, Weis MaryAnn, Carter Erin, Hefferan Theresa E, Perino Giorgio, Chang Weizhong, Smith Peter A, Roschger Paul, Klaushofer Klaus, Glorieux Francis H, Eyre David R, Raggio Cathleen, Rauch Frank, Marini Joan C
Abstract excerpt
CONTEXT: Type VIII osteogenesis imperfecta (OI; OMIM 601915) is a recessive form of lethal or severe OI caused by null mutations in P3H1, which encodes prolyl 3-hydroxylase 1. OBJECTIVES: Clinical and bone material description of non-lethal type VIII OI. DESIGN: Natural history study of type VIII OI. SETTING: Pediatric academic research centers. PATIENTS: Five patients with non-lethal type VIII OI, and one...
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