case_images: PMC6875291_01
case_images: Sanger sequencing results of the child (hemizygous for the variant), mother (heterozygous for the variant) and father (hemizygous for the ancestral allele) respectively.
case_images: CRIG2019-2687595.001.jpg
case_images: PMC6875291_01_CRIG2019-2687595.001.jpg
case_images: fig1
case_images: It was confirmed that the child was hemizygous and the mother was heterozygous for the variant (Figure 1).
case_images: PMC6875291_02