ANO5 and gnathodiaphyseal dysplasia: At present, eight GDD-causing TMEM16E mutations have been identified leading to amino acid exchanges at six positions: p.Arg215Gly [17], p.Cys356Gly, p.Cys356Arg [36], p.Cys356Tyr [2, 9, 17, 38], p.Cys360Tyr [17], p.Ser500Phe [29], p.Thr513Ile [22] and p.Gly518Glu [17].