Molecular and functional analysis of a novel MEK2 mutation in cardio-facio-cutaneous syndrome: Transmission through four generations

Cardio-facio-cutaneous (CFC) syndrome is one of the RASopathies and is caused by alteration of activity through the Ras/mitogen-activated protein kinase (MAPK) pathway due to heterozygous de novo mutations in protein kinases BRAF, MEK1 or MEK2. CFC is a rare multiple congenital anomaly disorder in w...

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Main Authors: Rauen, Katherine A., Tidyman, William E., Estep, Anne L., Sampath, Srirangan, Peltier, Henry M., Bale, Sherri J., Lacassie, Yves
Format: Artigo
Jezik:Inglês
Izdano: 2010
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Article
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC4180666/
https://ncbi.nlm.nih.gov/pubmed/20358587
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.33342
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