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...

Descripción completa

Detalles Bibliográficos
Autores principales: Ahmed, Sibtain, Arif, Aahan, Abbas, Saadia, Khan, Muhammad Osama, Kirmani, Salman, Khan, Aysha Habib
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7820303/
https://www.ncbi.nlm.nih.gov/pubmed/33520214
http://dx.doi.org/10.1016/j.amsu.2021.01.041

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7820303/
https://www.ncbi.nlm.nih.gov/pubmed/33520214
http://dx.doi.org/10.1016/j.amsu.2021.01.041

Ejemplares similares