An Intron c.103-3T>C Variant of the AMELX Gene Causes Combined Hypomineralized and Hypoplastic Type of Amelogenesis Imperfecta: Case Series and Review of the Literature

Amelogenesis imperfecta (AI) is a heterogeneous group of genetic disorders of dental enamel. X-linked AI results from disease-causing variants in the AMELX gene. In this paper, we characterise the genetic aetiology and enamel histology of female AI patients from two unrelated families with similar c...

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Detalles Bibliográficos
Autores principales: Leban, Tina, Trebušak Podkrajšek, Katarina, Kovač, Jernej, Fidler, Aleš, Pavlič, Alenka
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9321068/
https://www.ncbi.nlm.nih.gov/pubmed/35886055
http://dx.doi.org/10.3390/genes13071272

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9321068/
https://www.ncbi.nlm.nih.gov/pubmed/35886055
http://dx.doi.org/10.3390/genes13071272

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