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.

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第一作者： Elżbieta,Ciara

第一单位： Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland.

作者： Elżbieta,Ciara ^[1] ; Magdalena,Pelc ^[1] ; Dorota,Jurkiewicz ^[1] ; Monika,Kugaudo ^[2] ; Dorota,Gieruszczak-Białek ^[3] ; Agata,Skórka ^[3] ; Renata,Posmyk ^[4] ; Anna,Jakubiuk-Tomaszuk ^[5] ; Agata,Cieślikowska ^[1] ; Krystyna H,Chrzanowska ^[1] ; Aleksandra,Jezela-Stanek ^[6] ; Małgorzata,Krajewska-Walasek ^[1]

作者单位： Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland. ^[1] Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland; Department of Child and Adolescent Psychiatry, The Medical University of Warsaw, Poland. ^[2] Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland; Department of Paediatrics, Medical University of Warsaw, Poland. ^[3] Podlaskie Center of Clinical Genetics, Białystok, Poland. ^[4] Clinical Genetics Mastermed, Białystok, Poland; Department of Pediatric Neurology and Rehabilitation, Medical University of Białystok, Białystok, Poland. ^[5] Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland. Electronic address: jezela@gmail.com. ^[6]

关键词 BRAF CFC Cardio-facio-cutaneous syndrome Genotype–phenotype KRAS MEK1 MEK2 Novel mutation