Teeth are specialized structural components of the craniofacial skeleton. Developmental
defects occur either alone or in combination with other birth defects. In this paper, we review …

Amelogenesis imperfecta (AI) is a genetically and clinically heterogeneous group of
inherited dental enamel defects. Commonly described as an isolated trait, it may be …

Enamel-renal syndrome (ERS) is an autosomal recessive disorder characterized by severe
enamel hypoplasia, failed tooth eruption, intrapulpal calcifications, enlarged gingiva, and …

Background/Aims: Calcium homeostasis requires regulated cellular and interstitial systems
interacting to modulate the activity and movement of this ion. Disruption of these systems in …

Aim Biallelic loss‐of‐function FAM20A mutations cause amelogenesis imperfecta (AI) type
IG, better known as enamel renal syndrome (ERS), characterized by severe enamel …

The enamel‐renal syndrome of amelogenesis imperfecta (AI) and nephrocalcinosis, and the
amelogenesis imperfecta‐gingival fibromatosis syndrome have both been associated with …

Background: Gingival fibromatosis (GF) is characterized by fibrotic enlargement of the
gingiva that can be inherited as an isolated trait (named hereditary gingival fibromatosis) or …

Objectives To identify etiologic variants and perform deep dental phenotyping in patients
with amelogenesis imperfecta (AI). Methods Three patients of two unrelated families were …

Enamel renal syndrome (ERS) is a rare autosomal recessive disorder not fully
characterized. Here we investigated ERS characteristics in 11 patients from 5 Brazilian …

Amelogenesis imperfecta (AI) is a group of hereditary disorders that affect the quality and/or
quantity of dental enamel. This paper describes the clinicopathological features of a patient …