Article
Paternal uniparental disomy with segmental loss of heterozygosity of chromosome 11 are hallmark characteristics of syndromic and sporadic embryonal rhabdomyosarcoma.
American journal of medical genetics. Part A - 1 Dec 2016
Robbins Katherine M, Stabley Deborah L, Holbrook Jennifer, Sahraoui Rebecca, Sadreameli Alexa, Conard Katrina, Baker Laura, Gripp Karen W, Sol-Church Katia
Abstract excerpt
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 predisposition for cancer, most commonly embryonal rhabdomyosarcoma (ERMS). The goal of this study was to characterize...
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