Article
Oro-dental phenotyping and report of three families with RELT-associated amelogenesis imperfecta.
European journal of human genetics : EJHG - 1 Nov 2023
Resende Kemelly Karolliny Moreira, Riou Margot Charlotte, Yamaguti Paulo Marcio, Fournier Benjamin, Rondeau Sophie, Pacot Laurence, Berdal Ariane, Felizardo Rufino, Mazzeu Juliana Forte, Cormier-Daire Valérie, Gaucher Céline, Acevedo Ana Carolina, de La Dure-Molla Muriel
Abstract excerpt
Amelogenesis imperfecta (AI) is a group of rare genetic conditions characterized by quantitative and/or qualitative tooth enamel alterations. AI can manifest as an isolated trait or as part of a syndrome. Recently, five biallelic disease-causing variants in the RELT gene were identified in 7 families with autosomal recessive amelogenesis imperfecta (ARAI). RELT encodes an orphan receptor in the tumor necrosis...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.