Yüklüyor......
Phenotypic Spectrum of Costello Syndrome Individuals Harboring the Rare HRAS Mutation p.Gly13Asp
Costello syndrome is part of the RASopathies, a group of neurocardiofaciocutaneous syndromes caused by deregulation of the RAS mitogen-activated protein kinase pathway. Heterozygous mutations in HRAS are responsible for Costello syndrome, with more than 80% of the patients harboring the specific p.G...
Kaydedildi:
| Yayımlandı: | Am J Med Genet A |
|---|---|
| Asıl Yazarlar: | , , , , , , , |
| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
2017
|
| Konular: | |
| Online Erişim: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5397353/ https://ncbi.nlm.nih.gov/pubmed/28371260 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.38178 |
| Etiketler: |
Etiketle
Etiket eklenmemiş, İlk siz ekleyin!
|