Wordt geladen...
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...
Bewaard in:
| Gepubliceerd in: | Am J Med Genet A |
|---|---|
| Hoofdauteurs: | , , , , , , , , |
| Formaat: | Artigo |
| Taal: | Inglês |
| Gepubliceerd in: |
2016
|
| Onderwerpen: | |
| Online toegang: | 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 |
| Tags: |
Voeg label toe
Geen labels, Wees de eerste die dit record labelt!
|