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. 2022 Feb 18;15(2):205–212. doi: 10.18240/ijo.2022.02.03

Figure 3. Pedigrees and sequencing results of the two families.

Figure 3

Pedigrees show the clinically affected (solid symbols) and unaffected (open symbols) members. Patient I:2 and II:1 in Family 1 carried the same heterozygous c.41T>C (p.Leu14Ser) variant in BEST1 (A). Patient I:1 and II:1 in Family 2 carried the same heterozygous c.12560G>A (p. Arg4187His) in the USH2A (B), and patient I:2 and II:1 carried the same heterozygous c.345_346insGGCAAGGACG (p.Glu119Glyfs*116) variant in BEST1 (B).