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- Document type:
- Journal Article; Article
- Author(s):
- Kratz, CP; Nathrath, M; Freisinger, P; Dressel, P; Assmuss, HP; Klein, C; Yoshimi, A; Burdach, S; Niemeyer, CM
- 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.
- Journal title abbreviation:
- Eur J Pediatr
- Year:
- 2006
- Journal volume:
- 165
- Journal issue:
- 3
- Pages contribution:
- 182-5
- Language:
- eng
- Fulltext / DOI:
- doi:10.1007/s00431-005-0031-x
- Pubmed ID:
- http://view.ncbi.nlm.nih.gov/pubmed/16369799
- Print-ISSN:
- 0340-6199
- TUM Institution:
- Klinik und Poliklinik für Kinderheilkunde und Jugendmedizin
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