Distinguishing Costello versus cardio-facio-cutaneous syndrome: BRAF mutations in patients with a Costello phenotype.
Rauen
Katherine A
KA
Department of Pediatrics, Division of Medical Genetics, University of California, San Francisco, California, USA. rauen@cc.ucsf.edu
D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D002648:Child; D019465:Craniofacial Abnormalities / Q000175:diagnosis* / Q000235:genetics*; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D009154:Mutation; D010641:Phenotype; D048493:Proto-Oncogene Proteins B-raf / Q000235:genetics*; D012868:Skin Abnormalities / Q000175:diagnosis* / Q000235:genetics*; D013577:Syndrome
C482119:BRAF protein, human; D048493:Proto-Oncogene Proteins B-raf