Ontology highlight
ABSTRACT:
SUBMITTER: Wang SK
PROVIDER: S-EPMC3865794 | biostudies-literature | 2014 Jan
REPOSITORIES: biostudies-literature
Wang S K SK Reid B M BM Dugan S L SL Roggenbuck J A JA Read L L Aref P P Taheri A P H AP Yeganeh M Z MZ Simmer J P JP Hu J C-C JC
Journal of dental research 20131106 1
We identified two families with an autosomal-recessive disorder manifested by severe enamel hypoplasia, delayed and failed tooth eruption, misshapen teeth, intrapulpal calcifications, and localized gingival hyperplasia. Genetic analyses identified novel FAM20A mutations associated with the disease phenotype in both families. The proband of Family 1 had an altered splice junction in Intron 1 (g.502011G>C; c.405-1G>C) and a missense mutation in Exon 8 (g.65094G>A; c.1207G>A; p.D403N). The missense ...[more]