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Bone. 2013 Jan;52(1):366-71. doi: 10.1016/j.bone.2012.10.027. Epub 2012 Oct 29.

Severe osteoporosis and mutation in NOTCH2 gene in a woman with Hajdu-Cheney syndrome.

Author information

  • 1Laboratory for Research of Musculoskeletal System Theodoros Garofalidis, University of Athens, KAT hospital, Athens, Greece. ipstathopoulos@gmail.com

Abstract

Hajdu-Cheney syndrome (HCS) is a rare genetic disorder characterised by acro-osteolysis, skull deformation and generalised osteoporosis. Recently, truncating mutations in the last exon of NOTCH2, a protein-coding gene, were found to be responsible. We present the case of a young woman with HCS in whom clinical and radiologic diagnosis was confirmed with DNA tests.

PMID:
23117206
DOI:
10.1016/j.bone.2012.10.027
[PubMed - indexed for MEDLINE]
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