Fig. 3. (A) Complete evolutionary conservation of arginine 165 and isoleucine 180 of WDR4 gene. (B) Family pedigree. The novel compound heterozygous variants in WDR4 gene were confirmed by Sanger sequencing of the patient and his parents.

Journal of Genetic Medicine 2020;17:97-101 https://doi.org/10.5734/JGM.2020.17.2.97

© 2020 Korean Society of Medical Genetics and Genomics