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Differential allelic expression of SOS1 and hyperexpression of the activating SOS1 c.755C variant in a Noonan syndrome family
Noonan syndrome (NS) is a genetic condition characterized by congenital heart defects, short stature and characteristic facial features. We here present the case of a girl with moderate learning disabilities, delayed language development, craniofacial features and skin anomalies reminiscent of NS. A...
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| Gepubliceerd in: | Eur J Hum Genet |
|---|---|
| Hoofdauteurs: | , , , , , |
| Formaat: | Artigo |
| Taal: | Inglês |
| Gepubliceerd in: |
Nature Publishing Group
2015
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| Onderwerpen: | |
| Online toegang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4613488/ https://ncbi.nlm.nih.gov/pubmed/25712082 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2015.20 |
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