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

• Main Authors: Sher Alam Khan (Author), Muhammad Adnan Khan (Author), Nazif Muhammad (Author), Hina Bashir (Author), Niamat Khan (Author), Noor Muhammad (Author), Rüstem Yilmaz (Author), Saadullah Khan (Author), Naveed Wasif (Author)
• Format: Book
• Published: BMC, 2020-05-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background 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 composition. It appears both in syndromic as well as non-syndromic form...