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...

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Gepubliceerd in:Am J Med Genet A
Hoofdauteurs: Robbins, Katherine M., Stabley, Deborah L., Holbrook, Jennifer, Sahraoui, Rebecca, Sadreameli, Alexa, Conard, Katrina, Baker, Laura, Gripp, Karen W., Sol-Church, Katia
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: 2016
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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
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