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Paternal Uniparental Disomy with Segmental Loss of Heterozygosity of Chromosome 11 are Hallmark Characteristics of Syndromic and Sporadic Embryonal Rhabdomyosarcoma
Costello syndrome (CS) arises from a typically paternally derived germline mutation in the proto-oncogene HRAS, and is considered a rasopathy. CS results in failure-to-thrive, intellectual disabilities, short stature, coarse facial features, skeletal abnormalities, congenital heart disease, and a pr...
Enregistré dans:
| Publié dans: | Am J Med Genet A |
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| Auteurs principaux: | , , , , , , , , |
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
2016
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5130350/ https://ncbi.nlm.nih.gov/pubmed/27589201 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.37949 |
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