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ODP132 Efficacy of Romosozumab for Osteoporosis in a Patient with Hajdu-Cheney Syndrome: A Case Report
INTRODUCTION: Hajdu–Cheney syndrome (HCS) is a genetic disease with an autosomal-dominant pattern caused by mutations of NOTCH2. This rare disease primarily causes skeletal dysplasia, including craniofacial dysmorphology, dental anomalies, and short stature accompanied by radiographic abnormalities...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Oxford University Press
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9624654/ http://dx.doi.org/10.1210/jendso/bvac150.373 |