A novel nonsense variant in SLC24A4 causing a rare form of amelogenesis imperfecta in a Pakistani family

Amelogenesis imperfecta (AI) is a highly heterogeneous group of hereditary developmental abnormalities which mainly affects the dental enamel during tooth development in terms of its thickness, structure, and ...

Source: BMC Medical Genetics - May 7, 2020 Category: Genetics & Stem Cells Authors: Sher Alam Khan, Muhammad Adnan Khan, Nazif Muhammad, Hina Bashir, Niamat Khan, Noor Muhammad, R üstem Yilmaz, Saadullah Khan and Naveed Wasif Tags: Research article Source Type: research