Ontology highlight
ABSTRACT:
SUBMITTER: Roomaney IA
PROVIDER: S-EPMC10477592 | biostudies-literature | 2023
REPOSITORIES: biostudies-literature
Roomaney I A IA Kabbashi S S Beshtawi K K Moosa S S Chothia M Y MY Chetty M M
Frontiers in oral health 20230822
Enamel Renal Syndrome (ERS) (OMIM # 204690) is a rare genetic condition characterised by hypoplastic amelogenesis imperfecta, failed tooth eruption, intra-pulpal calcifications, gingival enlargement and occasionally nephrocalcinosis. In this case series, we report on four unrelated patients with a confirmed molecular diagnosis of ERS (<i>FAM20A</i> pathogenic variants) from Sub-Saharan Africa. The pathognomonic oral profile of ERS was mostly fulfilled in these patients, with the notable addition ...[more]