TY  - GEN
AU  - Ciara,Elżbieta
AU  - Pelc,Magdalena
AU  - Jurkiewicz,Dorota
AU  - Kugaudo,Monika
AU  - Gieruszczak-Białek,Dorota
AU  - Skórka,Agata
AU  - Posmyk,Renata
AU  - Jakubiuk-Tomaszuk,Anna
AU  - Cieślikowska,Agata
AU  - Chrzanowska,Krystyna H
AU  - Jezela-Stanek,Aleksandra
AU  - Krajewska-Walasek,Małgorzata
TI  - 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
SN  - 1878-0849
PY  - 2015///0904
KW  - Adult
KW  - Child
KW  - Child, Preschool
KW  - Ectodermal Dysplasia
KW  - diagnosis
KW  - Facies
KW  - Failure to Thrive
KW  - Female
KW  - Heart Defects, Congenital
KW  - Humans
KW  - MAP Kinase Kinase 1
KW  - genetics
KW  - MAP Kinase Kinase 2
KW  - Male
KW  - Mutation
KW  - Phenotype
KW  - Poland
KW  - epidemiology
KW  - Proto-Oncogene Proteins B-raf
KW  - White People
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1016/j.ejmg.2014.11.002
ER  -