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Hajdu-Cheney syndrome: a review
Hajdu Cheney Syndrome (HCS), Orpha 955, is a rare disease characterized by acroosteolysis, severe osteoporosis, short stature, specific craniofacial features, wormian bones, neurological symptoms, cardiovascular defects and polycystic kidneys. HCS is rare and is inherited as autosomal dominant altho...
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| Veröffentlicht in: | Orphanet J Rare Dis |
|---|---|
| Hauptverfasser: | , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
BioMed Central
2014
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4269900/ https://ncbi.nlm.nih.gov/pubmed/25491639 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-014-0200-y |
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