Browsing by Author "Rodríguez, Fernando"

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    • RAF1 variant in a patient with Noonan syndrome with multiple lentigines and craniosynostosis 
      Rodríguez, Fernando; Ponce, Diana; Berward, Francisco J.; Lopetegui, Bernardita; Cassorla Goluboff, Fernando; Aracena, Mariana (Wiley-Liss Inc., 2019)
      We report the case of a 14 years and 8 months girl, who is the first child of nonconsanguineous parents, with short stature, obstructive hypertrophic cardiomyopathy, multiple facial lentigines, high and wide forehead, ...