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Article

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

BMC medical genetics - 7 May 2020

Khan Sher Alam, Khan Muhammad Adnan, Muhammad Nazif, Bashir Hina, Khan Niamat, Muhammad Noor, Yilmaz Rüstem, Khan Saadullah, Wasif Naveed

Abstract excerpt

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 forms. In the affected individuals, the enamel is usually thin, soft, rough, brittle, pitted, chipped, and abraded, having...

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Identifiers

PMID: 32380970
DOI: 10.1186/s12881-020-01038-6
PMCID: PMC7206816

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