Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype–phenotype correlations

Cardio-facio-cutaneous syndrome (CFCS) is a rare disease characterized by mental retardation, facial dysmorphisms, ectodermal abnormalities, heart defects and developmental delay. CFCS is genetically heterogeneous and mutations in the KRAS, BRAF, MAP2K1 (MEK1) and MAP2K2 (MEK2) genes, encoding for c...

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Main Authors: Dentici, Maria Lisa, Sarkozy, Anna, Pantaleoni, Francesca, Carta, Claudio, Lepri, Francesca, Ferese, Rosangela, Cordeddu, Viviana, Martinelli, Simone, Briuglia, Silvana, Digilio, Maria Cristina, Zampino, Giuseppe, Tartaglia, Marco, Dallapiccola, Bruno
Format: Artigo
Sprog:Inglês
Udgivet: Nature Publishing Group 2009
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2947095/
https://ncbi.nlm.nih.gov/pubmed/19156172
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2008.256
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