case_images: PMC9283680_01
case_images: Genetic analysis indicated that the boy had a splicing variant (c.940-11G>A) of the OCRL gene. His mother carried a heterozygous mutation, whereas no mutation was detected in his father. Red arrow indicates the site of the mutant nucleotide.
case_images: fmed-09-913229-g001.jpg
case_images: PMC9283680_01_fmed-09-913229-g001.jpg
case_images: F1
case_images: His mother carried a heterozygous mutation, whereas no mutation was detected in his father (Figure 1).