CV Lattes
ResearcherID
Fundação Arnaldo Vieira de Carvalho. Faculdade de Ciências Médicas da Santa Casa de São Paulo (FCMSCSP) (Institutional affiliation from the last research proposal) Birthplace: Brazil
graduate at MEDICINA from Universidade Federal da Bahia (1997) and master's at Paediatrics from Universidade de São Paulo (2004). Has experience in Medicine (Source: Lattes Curriculum)
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Noonan syndrome (NS) is an autosomal dominant disease characterized by postnatal short stature, facial dimorphisms, congenital heart disease and thoracic deformity. Germline mutations found in components of the RAS/MAPK signaling pathway have been described in patients with NS and other rare syndromes whose phenotype overlaps the SN, explaining the molecular cause in about 75 % of cases. …
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