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Pedigree of the patient and mutation analysis of the patient's family. Mutation analysis of the patient's family revealed that the daughter of the patient was a heterozygous carrier of the c.755G>A variant, and the son of the patient was a heterozygous carrier of the c.426delT mutation. Her mother was a heterozygous carrier of the c.755G>A variant. Her 2 unaffected brothers were heterozygous carriers, and 1 sister had none of the 2 variants.
