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

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 th...

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Detalles Bibliográficos
Autores principales: Khan, Sher Alam, Khan, Muhammad Adnan, Muhammad, Nazif, Bashir, Hina, Khan, Niamat, Muhammad, Noor, Yilmaz, Rüstem, Khan, Saadullah, Wasif, Naveed
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7206816/
https://www.ncbi.nlm.nih.gov/pubmed/32380970
http://dx.doi.org/10.1186/s12881-020-01038-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7206816/
https://www.ncbi.nlm.nih.gov/pubmed/32380970
http://dx.doi.org/10.1186/s12881-020-01038-6

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