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...

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Detalles Bibliográficos
Autores principales: Ahmad, Afaf, Deeb, Haya, Alasmar, Diana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Case Report
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

Internet

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

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