A Recurrent <i>FAM83H</i> Mutation in an Extended Colombian Family and Variable Craniofacial Phenotypes

• Ngā kaituhi matua: Camila Alvarez (Author), María Andrea Aragón (Author), Yejin Lee (Author), Sandra Gutiérrez (Author), Patricia Méndez (Author), Dabeiba Adriana García (Author), Liliana Otero (Author), Jung-Wook Kim (Author)
• Hōputu: Pukapuka
• I whakaputaina: MDPI AG, 2022-03-01T00:00:00Z.
• Ngā marau: article
• Urunga tuihono: Connect to this object online.

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...