WDR72 and amelogenesis imperfecta: In addition, whole exome sequencing (WES) of a family with dRTA has revealed compound heterozygous pathogenic variants in the tryptophan-aspartate repeat domain 72 (WDR72) gene in three affected siblings that also had dental abnormalities [27].WDR72 mutations may therefore underlie dRTA cases with dental abnormalities, namely amelogenesis imperfecta, that were reported without molecular diagnosis [28].