Distinguishing Costello versus cardio-facio-cutaneous syndrome: BRAF mutations in patients with a Costello phenotype

Further delineation of the phenotype res

Further delineation of the phenotype resulting from BRAF or MEK1 germline mutations helps differentiate cardio-facio-cutaneous syndrome from Costello syndrome

✍ Karen W. Gripp; Angela E. Lin; Linda Nicholson; William Allen; Andrea Cramer; Ke 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 185 KB 👁 2 views

## Abstract Because Cardio‐facio‐cutaneous (CFC) syndrome has significant phenotypic overlap with Costello syndrome, it may be difficult to establish the diagnosis on a clinical basis. The recent discoveries of germline __HRAS__ mutations in patients with Costello syndrome and mutations in __BRAF__