Supplementary Figure 3: Probands with de novo PRKD1 mutations. | Nature Genetics

Supplementary Figure 3: Probands with de novo PRKD1 mutations.

From: Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing

Supplementary Figure 3

A) Clinical synopsis of the observed phenotypes across patients carrying PRKD1 mutations. Columns represent single probands, shades of cells represent the number of probands sharing a phenotype in the given phenotypic categories. Photographs of affected probands are shown for which consent could be obtained for publication. B) Protein plot showing PRKD1 protein domains and the distribution of de novo mutations. Two probands share identical missense mutations (Gly592Arg).

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