A novel missense mutation in the CLCN7 gene linked to benign autosomal dominant osteopetrosis: a case series

INTRODUCTION: Osteopetrosis is a rare inherited genetic disease characterized by sclerosis of the skeleton. The absence or malfunction of osteoclasts is found to be strongly associated with the disease evolution. Currently, four clinically distinct forms of the disease have been recognized: the infa...

Descripción completa

Detalles Bibliográficos
Autores principales: Rashid, Ban Mousa, Rashid, Nawshirwan Gafoor, Schulz, Ansgar, Lahr, Georgia, Nore, Beston Faiek
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2013
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3567968/
https://www.ncbi.nlm.nih.gov/pubmed/23302420
http://dx.doi.org/10.1186/1752-1947-7-7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3567968/
https://www.ncbi.nlm.nih.gov/pubmed/23302420
http://dx.doi.org/10.1186/1752-1947-7-7

Ejemplares similares