Author Description

Extreme short stature is termed as dwarfism and when it is caused by disorder of the bones, it is termed as skeletal dysplasia. Dwarfism can be proportionate or disproportionate. These are a large group of complex and clinically heterogeneous disorders and many of them have a genetic cause. The genetics of dwarfism disorders is understudied in Pakistan. Due to increased frequency of consanguinity, Pakistani population is highly suitable for studying genetics of recessively inherited disorders. Advances in sequencing technology have revolutionized the field of disease gene identification.