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. 2016 Dec 17;34(2):275–281. doi: 10.1007/s10815-016-0849-3

Fig. 2.

Fig. 2

a c.7778C>T (p.G2593E) mutation in the DNAH5 gene in the brother. Black arrows show the heterozygous mutation. b c.7778C>T (p.G2593E) mutation in the DNAH5 gene in the sister. Black arrows show the heterozygous mutation. The father carried the heterozygous mutation, and the mother had the wild-type gene