A mutation in NOTCH2 gene first associated with Hajdu –Cheney syndrome in a Greek family: diversity in phenotype and response to treatment

ConclusionsBone involvement can present with diverse severity in the same pedigree, ranging from low BMD to multiple fragility fractures. Antiresorptive therapy improves BMD, but its anti-fracture efficacy remains to be shown. The presence of CD might indicate the significant role of NOTCH2 signaling in different tissues.
Source: Endocrine - Category: Endocrinology Source Type: research