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Fig. 2 | BMC Medical Genetics

Fig. 2

From: Whole-exome sequencing identifies a de novo PDE3A variant causing autosomal dominant hypertension with brachydactyly type E syndrome: a case report

Fig. 2

The pathogenic variant and pedigree description. a Sanger sequencing of the family. Coloured blocks show the evolutionary conservation of the cluster across multiple species. b The family tree of the HTNB pedigree. Males and females are indicated by squares and circles, respectively. The filled symbol represents the HTNB-affected individual. The arrow shows the proband. +/− represents the heterozygous PDE3A p.Gly449Asp variant. −/− represents the wild type

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