Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology 2015-Feb
Hypomaturation amelogenesis imperfecta caused by a novel SLC24A4 mutation.
Solo los usuarios registrados pueden traducir artículos
Iniciar sesión Registrarse
El enlace se guarda en el portapapeles.
Palabras clave
Abstracto
In this case report of autosomal recessive pigmented hypomaturation amelogenesis imperfecta (AI), we identify a novel homozygous missense mutation (g.165151 T>G; c.1317 T>G; p.Leu436 Arg) in SLC24A4, a gene encoding a potassium-dependent sodium-calcium exchanger that is critical for hardening dental enamel during tooth development.