Intra-familial phenotype variant in hypoplastic amelogenesis imperfecta under a complex genetic component: a family report, whole-exome sequencing, and literature review

Abstract Amelogenesis imperfecta (AI) encompasses a group of conditions characterized by abnormalities in the development or function of tooth enamel. Clinical manifestations include different forms and degrees of enamel frailty, associated with sensitivity, tooth fractures, stains, abnormal tooth m...

Ausführliche Beschreibung

Bibliografische Detailangaben

Hauptverfasser:	Célia Regina Moreira LANZA, Artur Melo RODRIGUES, Iasmin Fonseca Tolentino MASCARENHAS, Talita Roberta Ferreira de SOUZA, Matheus Oliveira REIS, Felipe Morando AVELAR, Maria Raquel Santos CARVALHO, Vasco Ariston Carvalho de AZEVEDO, Debmalya BARH
Format:	Artigo
Sprache:	Inglês
Veröffentlicht:	Faculdade De Odontologia De Bauru - USP 2025-09-01
Schriftenreihe:	Journal of Applied Oral Science
Schlagworte:	Amelogenesis Imperfecta Enamel Tooth Gene ENAM
Online-Zugang:	http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1678-77572025000100302&lng=en&tlng=en
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