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

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

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...

Full description

Bibliographic Details
Main Authors: Sher Alam Khan, Muhammad Adnan Khan, Nazif Muhammad, Hina Bashir, Niamat Khan, Noor Muhammad, Rüstem Yilmaz, Saadullah Khan, Naveed Wasif
Format: Article
Language:English
Published: BMC 2020-05-01
Series:BMC Medical Genetics
Subjects:
Amelogenesis imperfecta
Exome sequencing
Non-syndromic
Nonsense variant
SLC24A4
Online Access:http://link.springer.com/article/10.1186/s12881-020-01038-6

Internet

http://link.springer.com/article/10.1186/s12881-020-01038-6

Similar Items