1.
Clin Case Rep
; 8(3): 539-544, 2020 Mar.
Article
in English
| MEDLINE
| ID: mdl-32185055
ABSTRACT
We describe a girl with clinical signs of cardiofaciocutaneous syndrome who simultaneously presents a mutation in the BRAF gene and a 9p24.3 microduplication. This genetic condition has never been described in the literature and could explain the phenotypic variability observed in the girl.