Phenotypic Spectrum in Osteogenesis Imperfecta Due to Mutations in TMEM38B: Unraveling a Complex Cellular Defect

CONTEXT: Recessive mutations in TMEM38B cause type XIV osteogenesis imperfecta (OI) by dysregulating intracellular calcium flux. OBJECTIVES: Clinical and bone material phenotype description and osteoblast differentiation studies. DESIGN AND SETTING: Natural history study in pediatric research center...

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Udgivet i:J Clin Endocrinol Metab
Main Authors: Webb, Emma A., Balasubramanian, Meena, Fratzl-Zelman, Nadja, Cabral, Wayne A., Titheradge, Hannah, Alsaedi, Atif, Saraff, Vrinda, Vogt, Julie, Cole, Trevor, Stewart, Susan, Crabtree, Nicola J., Sargent, Brandi M., Gamsjaeger, Sonja, Paschalis, Eleftherios P., Roschger, Paul, Klaushofer, Klaus, Shaw, Nick J., Marini, Joan C., Högler, Wolfgang
Format: Artigo
Sprog:Inglês
Udgivet: Endocrine Society 2017
Fag:
Clinical Research Articles
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5470761/
https://ncbi.nlm.nih.gov/pubmed/28323974
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2016-3766
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