Supplementary Table 1. CFC and control lines used in the present study. Subject Age at Sex Ethnicity Genotype Diagnosis biopsy HS1-11 4 M African American BRAF +/+ Control RMK0165D 12 F Vietnamese BRAF +/+ Control RMK0162D 15 F Caucasian (3/4), BRAF +/+ Control Japanese (1/4) RMK0134C 2 M Caucasian BRAF Q257R/+ CFC RMK0104C 4 F Caucasian BRAF Q257R/+ CFC RMK0056C 15 F Not recorded BRAF Q257R/+ CFC RMK0138C 16 F Caucasian BRAF Q257R/+ CFC Supplementary Table 2. Neuropsychiatric and neuroimaging phenotype of the CFC patients. We had no access to the medical records of patient RMK0104C; information available”: not “No assessed or not described in the medical records. Subject RMK0134C RMK0104C RMK0056C RMK0138C Sex M F F F Age at Biopsy 2 4 15 16 Relative Yes Yes No information No information Macrocephaly available available Clinical Yes Yes Yes Hypotonia No information available Global Yes Yes Yes No information Developmental Delay (Started walking at (Started walking at age (IQ of 68 at age 6; IQ of available Characteristics age 3.5, first words at 3, first words at age 3) 60 at age 10) age 2) Neuropsychiatric
Supplementary Table 1. CFC and control lines used in the present study. Subject Age at biopsy Sex Ethnicity Genotype Diagnosis HS1-11 4 M African American BRAF +/+ Control RMK0165D 12 F Vietnamese BRAF +/+ Control RMK0162D 15 F Caucasian (3/4), Japanese (1/4) BRAF +/+ Control RMK0134C 2 M Caucasian BRAF Q257R/+ CFC RMK0104C 4 F Caucasian BRAF Q257R/+ CFC RMK0056C 15 F Not recorded BRAF Q257R/+ CFC RMK0138C 16 F Caucasian BRAF Q257R/+ CFC Supplementary Table 2. Neuropsychiatric and neuroimaging phenotype of the CFC patients. We had no access to the medical records of patient RMK0104C; “No information available”: not assessed or not described in the medical records. Subject RMK0134C RMK0104C RMK0056C RMK0138C Sex M F F F Age at Biopsy 2 4 15 16 Neuropsychiatric Clinical Characteristics Relative Macrocephaly Yes No information available No information available Yes Hypotonia Yes No information available Yes Yes Global Developmental Delay Yes (Started walking at age 3.5, first words at age 2) No information available Yes (Started walking at age 3, first words at age 3) Yes (IQ of 68 at age 6; IQ of 60 at age 10)
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