Bone structural characteristics and response to bisphosphonate treatment in children with Hajdu-Cheney Syndrome.

Conclusions: Increased bone resorption and low cortical thickness are consistent with the effect of activating NOTCH2 mutations, which stimulate osteoclastogenesis. The increase in lumbar spine bone density and radial cortical thickness and density by BP therapy provides evidence of beneficial treatment effects in children with HJCYS. PMID: 28938420 [PubMed - as supplied by publisher]

https://www.ncbi.nlm.nih.gov/pubmed/28938420?dopt=Abstract

Source: The Journal of Clinical Endocrinology and Metabolism - September 8, 2017 Category: Endocrinology Authors: Sakka S, Gafni RI, Davies JH, Clarke B, Tebben P, Samuels M, Saraff V, Klaushofer K, Fratzl-Zelman N, Roschger P, Rauch F, Högler W Tags: J Clin Endocrinol Metab Source Type: research