Exploring the Pool of Pathogenic Variants of Amelogenesis Imperfecta: An Approach to the Understanding of Its Genetic Architecture

Autor: Blanca Urzúa, Ana Ortega-Pinto, Daniela Adorno-Farias, Irene Morales-Bozo, Sandra Rojas-Flores, Diego Briones-Marín, Constanza Lepiman-Torres

Publikováno v: Frontiers in Dental Medicine, Vol 2 (2021)

Objective: To identify which genes are associated with the clinical phenotype of amelogenesis Imperfecta (AI) and to elucidate which of these genes participate in the determination of isolated and syndromic forms.Methods: In this review, all data on

Externí odkaz: https://doaj.org/article/480615746acb4d24acab42a9a3d05ac9

Diversity of clinical, radiographic and genealogical findings in 41 families with amelogenesis imperfecta

Autor: Blanca Urzúa, Lilian Jara, Ana Ortega-Pinto, Ana María Salazar, Paulina Gajardo, Sonia Echeverría-López, José Jara-Sandoval, Daniela Adorno-Farias, Fabiola Werlinger, Irene Morales-Bozo, Alfredo Molina-Berríos, Sandra Rojas-Flores

Publikováno v: Journal of Applied Oral Science v.27 2019
Journal of applied oral science
Universidade de São Paulo (USP)
instacron:USP
Journal of Applied Oral Science, Vol 27, Iss 0 (2019)
Journal of Applied Oral Science
Journal of Applied Oral Science, Volume: 27, Article number: e20180359, Published: 01 APR 2019

Amelogenesis imperfecta (AI) is a group of enamel development disorders that alter the structure and chemical composition of the tissue. There is great variability in the clinical presentation; according to Witkop, AI can be categorized into 14 subty

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f3a3e66bb7a179115a11953684578dc
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1678-77572019000100438