case_images: PMC7532373_01
case_images: Confirmatory Sanger Sequencing of the VPS33B gene c.1098_1099delTG (p.Glu367Alafs*17) mutation from the patient and her parents (NM_018668).
case_images: CRIG2020-8872294.001.jpg
case_images: PMC7532373_01_CRIG2020-8872294.001.jpg
case_images: fig1
case_images: Variant interpretation (eVai, enGenome, Pavia, Italy) revealed that the patient was homozygous for the c.1098_1099delTG (p.Glu367Alafs*17) mutation in exon 14 of VPS33B gene (NM_018668) (Figure 1).