Frequencies of major anomalies in IVS4 homozygotes and other patients.

This compares (A) the present study and (B) a previous study.18 Part B was based on data shown in Table 3 in Verlander et al.18 However, patients with D195V and L554P were excluded because the pathogenic significance of D195V remains to be established16 and L554P was later shown to be associated with the severe clinical phenotype.23