Browsing by Author "784da0f6-99b9-4774-874a-535c18266767"

Now showing items 1-3 of 3

    • Congenital anomalies of poor prognosis. Genetics Consensus Committee Consenso de la Rama de Genética de la ... 
      Pardo Vargas, Rosa A.; Aracena, Mariana; Aravena, Teresa; Cares, Carolina; Cortés, Fanny; Faundes, Víctor; Mellado, Cecilia; Passalacqua, Cristóbal; Sanz, Patricia; Castillo Taucher, Silvia (Sociedad Chilena de Pediatria, 2016)
      © 2016 Sociedad Chilena de Pediatría Introduction The Genetic Branch of the Chilean Society of Paediatrics, given the draft Law governing the decriminalisation of abortion on three grounds, focusing on the second ground, ...
    • 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, ...
    • Two sisters resembling Gorlin-Chaudhry-Moss syndrome 
      Aravena, Teresa; Passalacqua, Cristóbal; Pizarro, Oscar; Aracena, Mariana (2011)
      The Gorlin-Chaudhry-Moss syndrome (GCMS), was describe initially by Gorlin et al. [Gorlin et al. (1960)] in two sisters with craniosynostosis, hypertrichosis, hypoplastic labia majora, dental defects, eye anomalies, patent ...