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Fig. 2 | BMC Medical Genetics

Fig. 2

From: Identification of novel KMT2D mutations in two Chinese children with Kabuki syndrome: a case report and systematic literature review

Fig. 2

Sanger sequencing results for patients and their parents. a-c were for patient 1 and his parents, which demonstrated the A deletion (c.5235delA heterozygous mutation, p.(A1746Lfs*39); red arrow) in patient 1, and no deletion at c.5235A (green arrows) in his parents; d-f were for patient 2 and his parents, which demonstrated the presence of nonsense mutation (c.7948G > A heterozygous mutation, p.(Q2350*); red arrow) in patient 2, and the absence of mutation at c.7948G (green arrows) in his parents

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