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Hajdu Cheney Syndrome due to NOTCH2 defect – First case report from Pakistan and review of literature
INTRODUCTION AND IMPORTANCE: Hajdu Cheney Syndrome (HCS) is a rare skeletal disease characterized by severe, progressive focal bone loss with osteoporosis, variable craniofacial, vertebral anomalies and distinctive facial features. It is inherited as an autosomal dominant disease although sporadic c...
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| Publicado no: | Ann Med Surg (Lond) |
|---|---|
| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Elsevier
2021
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7820303/ https://ncbi.nlm.nih.gov/pubmed/33520214 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.amsu.2021.01.041 |
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