RASopathies: Clinical Diagnosis in the First Year of Life.

  title={RASopathies: Clinical Diagnosis in the First Year of Life.},
  author={Maria Christina Digilio and F Lepri and Anwar Baban and Maria Lisa Dentici and Paolo Versacci and Rossella Capolino and Rosangela Ferese and Antonia De Luca and Matteo Tartaglia and Bruno Marino and Bruno Dallapiccola},
  journal={Molecular syndromology},
  volume={1 6},
Diagnosis within Noonan syndrome and related disorders (RASopathies) still presents a challenge during the first months of life, since most clinical features used to differentiate these conditions become manifest later in childhood. Here, we retrospectively reviewed the clinical records referred to the first year of life of 57 subjects with molecularly confirmed diagnosis of RASopathy, to define the early clinical features characterizing these disorders and improve our knowledge on natural… CONTINUE READING
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