Noonan syndrome: clinical features, diagnosis, and management guidelines.

  title={Noonan syndrome: clinical features, diagnosis, and management guidelines.},
  author={Alicia A Romano and Judith Allanson and Jovanna Dahlgren and Bruce D Gelb and Bryan Hall and Mary Ella Pierpont and Amy E. Roberts and Wanda Robinson and Clifford M. Takemoto and Jacqueline Anne Noonan},
  volume={126 4},
Noonan syndrome (NS) is a common, clinically and genetically heterogeneous condition characterized by distinctive facial features, short stature, chest deformity, congenital heart disease, and other comorbidities. Gene mutations identified in individuals with the NS phenotype are involved in the Ras/MAPK (mitogen-activated protein kinase) signal transduction pathway and currently explain ∼61% of NS cases. Thus, NS frequently remains a clinical diagnosis. Because of the variability in… CONTINUE READING
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