Article
ACP4 Variants in Hypoplastic Amelogenesis Imperfecta.
Calcified tissue international - 11 Apr 2026
Liu Lu, Au Cheuk Wang, Hany Ummey, Rigby Alice L, Chauhan Anesha, Brown Catriona, Sims Jessie, Murillo Gina, Acosta de Carmargo Marìa Gabriela, Inglehearn Chris F, Watson Christopher M, Mighell Alan J, Smith Claire E L
Abstract excerpt
Amelogenesis imperfecta (AI) is a group of rare inherited conditions causing tooth enamel defects. Human acid phosphatase 4 (ACP4) is a transmembrane protein involved in maintaining appositional enamel growth. Variants in ACP4 cause recessive hypoplastic AI. Here we identify further families and review published ACP4 variants causing AI. In three Pakistani families, we identified a new ACP4 variant, c.254T > C,...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.