Juvenile myelomonocytic leukaemia and Noonan syndrome.

@article{Strullu2014JuvenileML,
  title={Juvenile myelomonocytic leukaemia and Noonan syndrome.},
  author={Marion Strullu and Aur{\'e}lie Caye and Julie Lachenaud and Bruno Cassinat and Steven Gazal and Odile Fenneteau and Nathalie Pouvreau and Sabrina Fontanele Pereira and Clarisse Baumann and Audrey Contet and Nicolas Sirvent and Françoise M{\'e}chinaud and Isabelle Guellec and Dalila Adjaoud and Catherine Paillard and Corinne Alberti and Martin Zenker and Christine Chomienne and Yves Bertrand and Andr{\'e} Baruchel and Alain Verloes and H{\'e}l{\`e}ne Cav{\'e}},
  journal={Journal of medical genetics},
  year={2014},
  volume={51 10},
  pages={689-97}
}
BACKGROUND Infants with Noonan syndrome (NS) are predisposed to developing juvenile myelomonocytic leukaemia (JMML) or JMML-like myeloproliferative disorders (MPD). Whereas sporadic JMML is known to be aggressive, JMML occurring in patients with NS is often considered as benign and transitory. However, little information is available regarding the occurrence and characteristics of JMML in NS. METHODS AND RESULTS Within a large prospective cohort of 641 patients with a germline PTPN11 mutation… CONTINUE READING
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Co - occurring SHOC 2 and PTPN 11 mutations in a patient with severe / complex Noonan syndromelike phenotype

  • S Ekvall, L Hagenäs, J Allanson, G Annerén, Bondeson M-L
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