Since BRAF p.V600E  is an oncogenic somatic mutation that activates the MAPK pathway but is not found in CFC patients, we studied whether the most common germline mutation identified in CFC patients (the BRAF p.Q257R), equivalent to the mouse Braf p.Q241R mutation, results in pituitary endocrine deficiencies. The gene discussed is BRAF; the disease is cardiofaciocutaneous syndrome.