Fig. 2

Validation of identified mutation in the pediatric patient and the parents. a Sanger sequencing of DNAH5 reveals a heterozygous C > T mutation in the pediatric patient and the father. b Sanger sequencing of DNAH5 reveals a heterozygous deletion of T mutation in the pediatric patient and the mother. I-1, II-1 and II-2 indicate the pediatric patient, the father and the mother individually