@article{ead6873faec74fb6afc28188f8eaeb0b,
title = "Lethal proliferation of erythroid precursors in a neonate with a germline PTPN11 mutation",
abstract = "We report a neonate with hypertrophic cardiomyopathy and lethal myeloproliferative disorder with excessively proliferating immature erythroid precursors infiltrating non-hematopoietic organs. Mutational analysis uncovered a germline mutation in the Noonan syndrome/LEOPARD syndrome (NS/LS) gene PTPN11. In conclusion, this case report suggests that congenital myeloproliferative disorders in association with germline PTPN11 mutations may affect the erythroid lineage.",
keywords = "Congenital myeloproliferative disorder, Juvenile myelomonocytic leukemia, SHP-2",
author = "Kratz, {Christian Peter} and Michaela Nathrath and Peter Freisinger and Petra Dressel and Assmuss, {Hans Peter} and Cornelia Klein and Ayami Yoshimi and Stefan Burdach and Niemeyer, {Charlotte Marie}",
note = "Funding Information: This work was supported by the Deutsche Jos{\'e} Carreras Leuk{\"a}mie-Stiftung e.V. (C.P.K. and C.K.) and Bayrisches Staatsministerium f{\"u}r Wissenschaft, Forschung und Kunst (S.B.). There is no potential conflict of interest, real or perceived.",
year = "2006",
month = mar,
doi = "10.1007/s00431-005-0031-x",
language = "English",
volume = "165",
pages = "182--185",
journal = "European Journal of Pediatrics",
issn = "0340-6199",
publisher = "Springer Science and Business Media Deutschland GmbH",
number = "3",
}