Your privacy, your choice

We use essential cookies to make sure the site can function. We also use optional cookies for advertising, personalisation of content, usage analysis, and social media.

By accepting optional cookies, you consent to the processing of your personal data - including transfers to third parties. Some third parties are outside of the European Economic Area, with varying standards of data protection.

See our privacy policy for more information on the use of your personal data.

for further information and to change your choices.
Skip to main content
Fig. 1 | BMC Medical Genetics

Fig. 1

From: Novel PAK3 gene missense variant associated with two Chinese siblings with intellectual disability: a case report

Fig. 1

The novel likely pathogenic variant of the PAK3 gene and the brain MRI scans of the patients. a The family tree. b The left sides show sagittal T1 FLAIR images with widened lateral ventricles and thin corpus callosum. The right sides show axial T2 FLAIR images with enlarged lateral ventricles. c The hemizygous variant detected by whole-exome sequencing and confirmed by Sanger sequencing. d The variant region is conserved among human, rhesus, mouse, dog, elephant, chicken and zebrafish. e The predicted structure of the mutated PAK3, with the site of the mutation in the enlarged views

Back to article page

BMC Medical Genetics

ISSN: 1471-2350

Contact us