Hajdu-Cheney syndrome with a novel variant in NOTCH2 gene: A case report
Introduction: Hajdu-Cheney syndrome is a rare disorder caused by truncation mutations in exon 34 of the NOTCH2 gene. The main presentation includes acro-osteolysis, osteoporosis, and dysmorphism. This syndrome affects the other body systems as well. Case presentation: We report a case of a 6-year-ol...
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| Principais autores: | , , , , , |
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| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
Elsevier
2023-12-01
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| Serier: | Bone Reports |
| Fag: | |
| Online adgang: | http://www.sciencedirect.com/science/article/pii/S2352187223000578 |
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