Condition: AMELOGENESIS IMPERFECTA, TYPE IH


rs140015315 in ITGB6 gene and AMELOGENESIS IMPERFECTA, TYPE IH PMID 24319098 2014 A missense mutation in ITGB6 causes pitted hypomineralized amelogenesis imperfecta.

PMID 24305999 2014 ITGB6 loss-of-function mutations cause autosomal recessive amelogenesis imperfecta.