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

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

<i>Background and Objectives</i>: 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 (<i>EXT1</i> and <i>EXT2</i>) are report...

Full description

Bibliographic Details
Main Authors: Muhammad Ajmal, Hafsah Muhammad, Muhammad Nasir, Muhammad Shoaib, Salman Akbar Malik, Irfan Ullah
Format: Article
Language:English
Published: MDPI AG 2022-12-01
Series:Medicina
Subjects:
hereditary multiple exostoses
<i>EXT1</i>
<i>EXT2</i>
heparan-sulfate
haploinsufficiency
Online Access:https://www.mdpi.com/1648-9144/59/1/100

Internet

https://www.mdpi.com/1648-9144/59/1/100

Similar Items