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Table 1 Demographic and body mass index characteristics of the study population

From: Musculo-skeletal phenotype of Costello syndrome and cardio-facio-cutaneous syndrome: insights on the functional assessment status

Phenotype Gene variant No of patients Age BMI Total
CS HRAS (p.Gly12Ser) 14 (4 M; 10 F) 19.8 ± 9.7 19.2 ± 3.0 17 (6 M; 11 F)
HRAS (p.Gly13Cys) 2 (1 M; 1 F) 14.5 ± 2.1 17.2 ± 0.2
HRAS (p.Gly12Ala) 1 (1 M; 0 F) 8 15.6
CFCS BRAF (all variants)a 13 (3 M; 10 F) 12.7 ± 6.2 16.7 ± 2.6 17 (6 M; 11 F)
MAP2K1(all variants)b 3 (2 M; 1 F) 23.6 ± 9.0 15.0 ± 1.4
MAP2K2(p.Ala62Pro) 1 (1 M; 0 F) 7 17.4
  1. aBRAF variants: 3/13: p.Gln257Arg; 1/13: p.Val487Gly; 1/13: p.Thr599Ile; 1/13: p.Trp531Arg; 1/13: p.Thr470Pro; 1/13: p.Lys601Gln; 1/13: p.Leu525Pro; 1/13: p.Trp531Cys; 1/13: p.Lys483Asn; 1/13: p.Lys499Asn; 1/13: p.Gln709Arg
  2. bMAP2K1 variants: 2/3: p.Tyr130Cys; 1/3: p.Leu42Phe