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...
| Principais autores: | , , , , , |
|---|---|
| Formato: | Artigo |
| Idioma: | English |
| Publicado em: |
Elsevier
2023-12-01
|
| coleção: | Bone Reports |
| Assuntos: | |
| Acesso em linha: | http://www.sciencedirect.com/science/article/pii/S2352187223000578 |