An Intron c.103-3T>C Variant of the AMELX Gene Causes Combined Hypomineralized and Hypoplastic Type of Amelogenesis Imperfecta: Case Series and Review of the Literature

Amelogenesis imperfecta (AI) is a heterogeneous group of genetic disorders of dental enamel. X-linked AI results from disease-causing variants in the AMELX gene. In this paper, we characterise the genetic aetiology and enamel histology of female AI patients from two unrelated families with similar c...

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Veröffentlicht in:	Genes 2022-07, Vol.13 (7), p.1272
Hauptverfasser:	Leban, Tina, Trebušak Podkrajšek, Katarina, Kovač, Jernej, Fidler, Aleš, Pavlič, Alenka
Format:	Artikel
Sprache:	eng
Schlagworte:	Amelogenesis imperfecta Amelogenesis Imperfecta - genetics Amelogenesis Imperfecta - pathology Amelogenin - genetics Dental enamel Disease Enamel Exons - genetics Female Gene expression Genetic disorders Genomics Genotype & phenotype Humans Infant, Newborn Introns - genetics Literature reviews Mineralization Mutation Neonates Nucleotides Patients Proteins Proteins - genetics Scanning electron microscopy Software Teeth
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