Figure 1 | Scientific Reports

Figure 1

From: Identification of a de novo DYNC1H1 mutation via WES according to published guidelines

Figure 1

Clinical features of the patients and the pedigree with the c.2327C> T, p.P776L mutation in DYNC1H1.

(A) Foot deformities (pes cavus) of the two patients. (B) Pedigree structure of the studied family. In the family, WES was performed in I:1, I:2 and II:3. (C) Electropherograms of the Sanger sequences of the DYNC1H1 c.2327C > T, p.P776L variant; II: 2 and II: 3 are heterozygous mutations. (D) The conservation of this variant among different species.

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