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Facio-cutaneous-skeletal syndrome: New nosological entity or Costello syndrome?

✍ Scribed by Borochowitz, Zvi ;Pavone, L. ;Mazor, G. ;Rizzo, R. ;Dar, H.


Publisher
John Wiley and Sons
Year
1993
Tongue
English
Weight
117 KB
Volume
47
Category
Article
ISSN
0148-7299

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## 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__