Haploinsufficiency of EXT1 and Heparan Sulphate Deficiency Associated with Hereditary Multiple Exostoses in a Pakistani Family

Background and Objectives: Hereditary multiple exostoses (HME) is a disease characterized by cartilage-capped bony protuberances at the site of growth plates of long bones. Functional mutations in the exostosin genes (EXT1 and EXT2) are reported to affect the hedgehog signalling pathways leading to...

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Detalles Bibliográficos
Autores principales: Ajmal, Muhammad, Muhammad, Hafsah, Nasir, Muhammad, Shoaib, Muhammad, Malik, Salman Akbar, Ullah, Irfan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9863873/
https://www.ncbi.nlm.nih.gov/pubmed/36676722
http://dx.doi.org/10.3390/medicina59010100

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9863873/
https://www.ncbi.nlm.nih.gov/pubmed/36676722
http://dx.doi.org/10.3390/medicina59010100

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