A Spontaneous Mutation: Amelogenesis Imperfecta with Cysts in Rats

Active - site Mutation in Hypomaturation Amelogenesis Imperfecta

Autosomal dominant amelogenesis imperfecta associated with ENAM frameshift mutation p.Asn36Ilefs56.

To the Editor : Amelogenesis imperfecta (AI) is a collection of nonsyndromic inherited diseases featuring a variety of abnormal enamel phenotypes, patterns of inheritance, and causative genes. The term is also used to indicate the presence of an enamel phenotype in syndromes. Dental enamel is the most highly mineralized tissue in the body, lacks collagen, and is the product of specialized epith...

A missense mutation in ITGB6 causes pitted hypomineralized amelogenesis imperfecta

We identified a family in which pitted hypomineralized amelogenesis imperfecta (AI) with premature enamel failure segregated in an autosomal recessive fashion. Whole-exome sequencing revealed a missense mutation (c.586C>A, p.P196T) in the I-domain of integrin-β6 (ITGB6), which is consistently predicted to be pathogenic by all available programmes and is the only variant that segregates with the...

Amelogenesis Imperfecta- A Review

NTRODUCTION Amelogenesis Imperfecta (AI) is a developmental disorder of genomic origin, associated with abnormal enamel formation. Although AI is considered as a single disease entity, it actually represents a group of heterogeneous conditions, with diverse structural defects of enamel resulting in a range of clinical phenotypes. 1 It is characterized by clinical and genetic heterogeneity in th...

[Amelogenesis imperfecta].

Immediate Desensitization in Teeth Affected by Amelogenesis Imperfecta Braz Dent J 2016; 27(3): 359-362 Oral Health-Related Quality of Life Before and After Crown Therapy in Young Patients with Amelogenesis Imperfecta Health Qual Life Outcomes 2015; (13): 197 Amelogenesis Imperfecta: Rehabilitation and Brainstorming on the Treatment Outcome after the First Year Case Rep Dent (2015) Art ID 57916...