Article
Nutritional aspects of Noonan syndrome and Noonan-related disorders.
American journal of medical genetics. Part A - 1 Jun 2016
da Silva Fernanda Marchetto, Jorge Alexander Augusto, Malaquias Alexandra, da Costa Pereira Alexandre, Yamamoto Guilherme Lopes, Kim Chong Ae, Bertola Debora
Abstract excerpt
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...
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