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A, The proposita of family A, a 43-yr-old woman with deafness and a large goiter; B, gross appearance of thyroid at surgery showing multinodular goiter with larger nodules in the right lobe; C and D, the proposita was compound heterozygous for c.279delT, a frameshift mutation at exon 3 (C), and c.578C→T at exon 5 (D).
