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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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| Main Authors: | , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2014
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| Assuntos: | |
| Acesso em linha: | 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 |
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