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...

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Detalles Bibliográficos
Autores principales: Chen, Jin-Lan, Zhu, Xin, Zhao, Tian-Li, Wang, Jian, Yang, Yi-Feng, Tan, Zhi-Ping
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4031927/
https://www.ncbi.nlm.nih.gov/pubmed/24739123
http://dx.doi.org/10.1186/1755-8166-7-28

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4031927/
https://www.ncbi.nlm.nih.gov/pubmed/24739123
http://dx.doi.org/10.1186/1755-8166-7-28

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