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An Attenuated Phenotype of Costello Syndrome in Three Unrelated Individuals with a HRAS c.179G>A (p.Gly60Asp) Correlates with Uncommon Functional Consequences
Heterozygous germline mutations in the proto-oncogene HRAS cause Costello syndrome (CS), an intellectual disability condition with severe failure-to-thrive, cardiac abnormalities, predisposition to tumors and neurologic abnormalities. More than 80% of patients share the HRAS mutation c.34G>A (p.G...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | Am J Med Genet A |
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| Κύριοι συγγραφείς: | , , , , , , , , , , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
2015
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4830354/ https://ncbi.nlm.nih.gov/pubmed/25914166 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.37128 |
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