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• W2334943631 abstract "Rasopathies are a group of rare disorders characterized by neurocardiofaciocutaneous involvement, and caused by mutations in several genes of the RAS/MAPK pathway. In the present study, we characterized growth parameters, body composition, and nutritional aspects of children and adults (n = 62) affected by these disorders, mainly Noonan syndrome, using an indirect method—anthropometry—and a 24‐hr recall questionnaire. The growth parameters in our cohort showed short stature, especially in individuals with RAF1 and SHOC2 mutations, lower obesity rates compared to the control population, and BMI scores highest in individuals with BRAF mutations and lowest in individuals with SHOC2 . Body composition showed a compromise in the upper arm muscle circumference, with a statistically significant difference in the z‐score of triceps skinfold ( P = 0.0204) and upper arm fat area ( P = 0.0388) between BRAF and SHOC2 groups and in the z‐score of triceps skinfold between RAF1 and SHOC2 ( P = 0.0218). The pattern of macronutrient consumption was similar to the control population. Our study is the first to address body composition in RASopathy individuals and the data indicate a compromise not only in adipose tissue, but also in muscle mass. Studies using different techniques, such as dual‐energy X‐ray absorptiometry or imaging studies, which give a more precise delineation of fat and non‐fat mass, are required to confirm our results, ultimately causing an impact on management strategies. © 2016 Wiley Periodicals, Inc." @default.
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• W2334943631 date "2016-04-01" @default.
• W2334943631 modified "2023-10-07" @default.
• W2334943631 title "Nutritional aspects of Noonan syndrome and Noonan-related disorders" @default.
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• W2334943631 doi "https://doi.org/10.1002/ajmg.a.37639" @default.
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