PMC9283680_01
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.
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PMC9283680_01_fmed-09-913229-g001.jpg
F1
His mother carried a heterozygous mutation, whereas no mutation was detected in his father (Figure 1).