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Activating mutations affecting the Dbl homology domain of SOS2 cause Noonan syndrome
The RASopathies constitute a family of autosomal dominant disorders whose major features include facial dysmorphism, cardiac defects, reduced postnatal growth, variable cognitive deficits, ectodermal and skeletal anomalies, and susceptibility to certain malignancies. Noonan syndrome (NS), the common...
Uloženo v:
| Vydáno v: | Hum Mutat |
|---|---|
| Hlavní autoři: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
2015
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4604019/ https://ncbi.nlm.nih.gov/pubmed/26173643 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.22834 |
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