The study of extracellular phosphorylation was initiated in late 19th century when the
secreted milk protein, casein, and egg-yolk protein, phosvitin, were shown to be …

Objective The aim of systematic review was to describe the phenotypes and molecular
profiles of syndromes with gingival fibromatosis (GF). Methods A comprehensive search of …

Mutations in FAM20A cause tooth enamel defects known as Amelogenesis Imperfecta (AI)
and renal calcification. We previously showed that Fam20A is a secretory pathway …

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

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 recessive disorder caused by loss-of-function
mutations in FAM20A (family with sequence similarity 20 member A, OMIM# 611062) …

Background and objective Biallelic loss‐of‐function mutations of human FAM20A have been
known to cause enamel‐renal syndrome (ERS), featured by agenesis of dental enamel …

Aggressive periodontitis (AgP) occurs at an early age and causes rapid periodontal tissue
destruction. Nucleotide-binding oligomerization domain-containing protein 2 (NOD2) …

Aim Loss‐of‐function mutations in FAM20A result in amelogenesis imperfecta IG (AI1G) or
enamel‐renal syndrome, characterized by hypoplastic enamel, ectopic calcification, and …

The enamel renal syndrome (ERS) is a rare disorder featured by amelogenesis imperfecta,
gingival fibromatosis and nephrocalcinosis. ERS is caused by bi-allelic mutations in the …