Article
Is diagnosing cardio-facio-cutaneous (CFC) syndrome still a challenge? Delineation of the phenotype in 15 Polish patients with proven mutations, including novel mutations in the BRAF1 gene.
European journal of medical genetics - 1 Jan 2015
Ciara Elżbieta, Pelc Magdalena, Jurkiewicz Dorota, Kugaudo Monika, Gieruszczak-Białek Dorota, Skórka Agata, Posmyk Renata, Jakubiuk-Tomaszuk Anna, Cieślikowska Agata, Chrzanowska Krystyna H, Jezela-Stanek Aleksandra, Krajewska-Walasek Małgorzata
Abstract excerpt
Cardio-facio-cutaneous (CFC) syndrome is characterized by a variable degree of developmental delay and congenital anomalies, including characteristic facial, cardiac, and ectodermal abnormalities. It is caused by activating mutations in the Ras/mitogen-activated protein kinase (MAPK) signaling pathway. In, however, approximately 10%-30% of individuals with a clinical diagnosis of CFCS, no mutation of the...
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