Non-Lethal Type VIII Osteogenesis Imperfecta Has Elevated Bone Matrix Mineralization

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...

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Gepubliceerd in:J Clin Endocrinol Metab
Hoofdauteurs: 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.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Endocrine Society 2016
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Original Articles
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5010570/
https://ncbi.nlm.nih.gov/pubmed/27383115
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2016-1334
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