Cargando…
Hajdu Cheney syndrome; A novel NOTCH2 mutation in a Syrian child, and treatment with zolidronic acid: A case report and a literature review of treatments
INTRODUCTION: Hajdu Cheney Syndrome (HCS) is a rare genetic disorder characterized by skeletal deformities such as acroosteolysis, osteoporosis, unique craniofacial features, and other systemic abnormalities. This syndrome is caused by NOTCH2 gene mutations, which cause an increase of osteoclast and...
| Autores principales: | , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Elsevier
2021
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8606845/ https://www.ncbi.nlm.nih.gov/pubmed/34840770 http://dx.doi.org/10.1016/j.amsu.2021.103023 |