Article
Phenotypic Spectrum in Osteogenesis Imperfecta Due to Mutations in TMEM38B: Unraveling a Complex Cellular Defect.
The Journal of clinical endocrinology and metabolism - 1 Jun 2017
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
Abstract excerpt
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 centers. Patients: Eight patients with type XIV OI. Main Outcome Measures: Clinical examinations included bone mineral...
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