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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Vydáno v:J Clin Endocrinol Metab
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: Endocrine Society 2017
Témata:
Clinical Research Articles
On-line přístup: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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