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A Recurrent FAM83H Mutation in an Extended Colombian Family and Variable Craniofacial Phenotypes

Amelogenesis imperfecta (AI) is a collection of rare genetic disorders affecting the quantity and/or quality of the tooth enamel. AI can be classified into three major types according to the clinical phenotype: hypoplastic, hypocalcified, and hypomatured. Among them, the hypocalcified type shows the...

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Detalles Bibliográficos
Autores principales: Alvarez, Camila, Aragón, María Andrea, Lee, Yejin, Gutiérrez, Sandra, Méndez, Patricia, García, Dabeiba Adriana, Otero, Liliana, Kim, Jung-Wook
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8947040/
https://www.ncbi.nlm.nih.gov/pubmed/35327733
http://dx.doi.org/10.3390/children9030362