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-Reference-Cited by-同舟云学术

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

Published:2015-01 Issue:1 Volume:58 Page:14-20
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

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

Funder

NCN

MNiSW

CMHI

EU Structural Funds

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics,General Medicine

Reference11 articles.

1. Cardio-facio-cutaneous syndrome: does genotype predict phenotype?;Allanson;Am J Med Genet C Semin Med Genet,2011

2. Cardio-facio-cutaneous (CFC) syndrome: report of a new patient;Chrzanowska;Am J Med Genet,1989