Fig. 1
From: Two novel variants in DYRK1B causative of AOMS3: expanding the clinical spectrum
Pedigree of two families with an autosomal dominant inheritance pattern of DYRK1B mutations associated with AOMS3. Family 1 with p.Arg252His (Arg: CGC/His: CAC). Family 2 showing the p.Lys68Gln mutation (Lys: AAG/Gln: CAG). The index cases (II.5 in family 1 and II.12 in family 2) are indicated by arrows. Genotypes are presented under each individual. Family members with clinical signs compatible with AOMS3 are indicated by solid symbols. Slashes indicate that the individual is deceased