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Pedigree and sequence analysis in a consanguineous Chinese family with ANSD. a) Pedigree of the ANSD family. N: normal, V: the OTOF c.1236delC variant. The arrow indicates the proband. b) The homozygous OTOF c.1236delC variant in the IV:1 patient. c) The heterozygous OTOF c.1236delC variant in the unaffected individual (IV:3). d) The OTOF gene sequences of a healthy control. The arrows in Figs. b, c, and d indicate the position of nucleotide 1236 in the OTOF gene.
