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...

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Detaylı Bibliyografya
Yayımlandı:Am J Med Genet A
Asıl Yazarlar: Gripp, Karen W., Sol-Church, Katia, Smpokou, Patroula, Graham, Gail E., Stevenson, David A., Hanson, Heather, Viskochil, David H., Baker, Laura C., Russo, Bridget, Gardner, Nick, Stabley, Deborah L., Kolbe, Verena, Rosenberger, Georg
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 2015
Konular:
Article
Online Erişim: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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