Amelogenesis imperfectaGene: KCNJ1
PMID:23341834 report 2 girls with Bartter's Syndrome and amelogenesis imperfecta. In one case, BS was due to a A214V mutation in exon 5 of KCNJ1.
Created: 12 Jun 2017, 9:13 a.m.
This panel has been promoted after review by Claire Smith (Leeds) and further personal consultation with Dr Smith
KCNJ1 was created by rfoulger
KCNJ1 was added to Amelogenesis Imperfectapanel. Sources: Literature