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- W3199374001 abstract "The authors describe 5 patients with Cardio-Facio-Cutaneous (CFC) syndrome with features of septo−optic dysplasia (SOD), and GH/IGF−1 deficiency of variable degree. All were identified to carry a gain−of−function mutation in BRAF." @default.
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- W3199374001 title "Activating mutations in BRAF disrupt the hypothalamo-pituitary axis leading to hypopituitarism in mice and humans" @default.
- W3199374001 doi "https://doi.org/10.1530/ey.18.1.7" @default.
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