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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Am J Med Genet A
Main Authors: Robbins, Katherine M., Stabley, Deborah L., Holbrook, Jennifer, Sahraoui, Rebecca, Sadreameli, Alexa, Conard, Katrina, Baker, Laura, Gripp, Karen W., Sol-Church, Katia
Formato: Artigo
Idioma:Inglês
Publicado em: 2016
Assuntos:
Article
Acesso em linha: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: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados