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(A) The pedigree of the patient (arrow). (B) The results of direct sequencing of MYH9 in the proband and family members. The proband was heterozygous for a missense mutation, c.97T>A, p.Trp33Arg. His parents did not have the mutation, indicating a de novo occurrence of the mutation in the proband. His brother was also homozygous for the wild-type sequence, as were his parents.
