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(A) Sequencing analysis revealed a frameshift mutation (c.1893dup; p.Arg632Glnfs*20) in the proband, his mother, and his brother. (B) On the basis of the result of multiplex ligation-dependent probe amplification, 4 exons (exons 9, 10, 7, and 8 in this order) with half the copy number were identified, indicating a large deletion in the proband, his father, and his brother.
