| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 3798155 | Medicina Clínica | 2015 | 6 Pages |
Abstract
CFC patients showed a rather severe phenotype but at least one patient with BRAF mutation showed no developmental delay, which illustrates the variability of the phenotypic spectrum caused by BRAF mutations. Molecular genetic testing is a valuable tool for differential diagnosis of CFC and NS related disorders.
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Authors
Atilano Carcavilla, Sixto GarcÃa-Miñaúr, Antonio Pérez-Aytés, Teresa Vendrell, Isabel Pinto, Encarna Guillén-Navarro, Antonio González-Meneses, Yoko Aoki, Daniel Grinberg, Begoña Ezquieta,