Publications by authors named "Firdous Bukhari"
Heredity (Edinb)
January 2018
Article Synopsis
- Researchers sequenced the genomes of 6 family members from a consanguineous tribe in Pakistan to study dwarfism, focusing on identifying the causal variants.
- They discovered a specific missense variant, rs111033552, in the COL10A1 gene likely linked to the dwarfism condition, confirmed through Sanger sequencing in 22 family members.
- The identified mutation is unique to affected family members and not found in a large population sample, strengthening its association with the dwarfism phenotype.
