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: Molecular and clinical studies in 107 Noonan syndrome affected individuals with PTPN11 mutations

Fig. 1

Location of PTPN11 pathogenic variants shown along with exons and SHP-2 functional protein domains. The bar at top depicts the exons of the PTPN11 gene, with the coding region in pink. The blue boxes above the bar represent the number of patients observed with that particular pathogenic variant. The corresponding functional domains of the SHP-2 protein are shown below and includes the two SH2 domains and the protein tyrosine phosphatase (PTP) domain

Back to article page

BMC Medical Genetics

ISSN: 1471-2350

Contact us