Rare copy number variations containing genes involved in RASopathies: deletion of SHOC2 and duplication of PTPN11

BACKGROUND: RASopathies are a group of disorders related to Noonan syndrome that with dysregulated RAS-mitogen-activated protein kinase (MAPK) signaling pathway. Noonan syndrome (NS, OMIM# 163950) is a both phenotypically and genotypically variable disorder. We and other researchers have demonstrate...

Fuld beskrivelse

Na minha lista:
Bibliografiske detaljer
Main Authors: Chen, Jin-Lan, Zhu, Xin, Zhao, Tian-Li, Wang, Jian, Yang, Yi-Feng, Tan, Zhi-Ping
Format: Artigo
Sprog:Inglês
Udgivet: BioMed Central 2014
Fag:
Research
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4031927/
https://ncbi.nlm.nih.gov/pubmed/24739123
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1755-8166-7-28
Tags: Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!

Lignende værker