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 BRAF gene
Titel:
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 BRAF gene
Auteur:
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