Severe osteoporosis and mutation in NOTCH2 gene in a woman with Hajdu-Cheney syndrome.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 23117206.
- Also identified by DOI 10.1016/j.bone.2012.10.027.
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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.
Medical subject headings
- Hajdu-Cheney Syndrome
- Mutation
- Osteoporosis
- Receptor, Notch2