Novel ITGB6 variants cause hypoplastic-hypomineralized amelogenesis imperfecta and taurodontism: characterization of tooth phenotype and review of literature

OBJECTIVES: To characterize phenotype and genotype of amelogenesis imperfecta (AI) in a Thai patient, and review of literature. MATERIALS AND METHODS: Variants were identified using trio-exome and Sanger sequencing. The ITGB6 protein level in patient’s gingival cells was measured. The patient’s deci...

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Detalles Bibliográficos
Autores principales: Sriwattanapong, Kanokwan, Theerapanon, Thanakorn, Boonprakong, Lawan, Srijunbarl, Anucharte, Porntaveetus, Thantrira, Shotelersuk, Vorasuk
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10090198/
https://www.ncbi.nlm.nih.gov/pubmed/37041139
http://dx.doi.org/10.1038/s41405-023-00142-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10090198/
https://www.ncbi.nlm.nih.gov/pubmed/37041139
http://dx.doi.org/10.1038/s41405-023-00142-y

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