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Updated: Aug 14, 2026

Direct Lineage Reprogramming of Adult Mouse Fibroblast to Erythroid Progenitors
Published on: December 14, 2018
Lethal proliferation of erythroid precursors in a neonate with a germline PTPN11 mutation
Christian Peter Kratz1, Michaela Nathrath, Peter Freisinger
1Department of Pediatrics and Adolescent Medicine, University of Freiburg, Freiburg, Germany. kratz@kikli.ukl.uni-freiburg.de
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.
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