Lethal proliferation of erythroid precursors in a neonate with a germline PTPN11 mutation.

Titel:: Lethal proliferation of erythroid precursors in a neonate with a germline PTPN11 mutation.
Dokumenttyp:: Journal Article; Article
Autor(en):: Kratz, CP; Nathrath, M; Freisinger, P; Dressel, P; Assmuss, HP; Klein, C; Yoshimi, A; Burdach, S; Niemeyer, CM
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.
Zeitschriftentitel:: Eur J Pediatr
Jahr:: 2006
Band / Volume:: 165
Heft / Issue:: 3
Seitenangaben Beitrag:: 182-5
Sprache:: eng
Volltext / DOI:: doi:10.1007/s00431-005-0031-x
PubMed:: http://view.ncbi.nlm.nih.gov/pubmed/16369799
Print-ISSN:: 0340-6199
TUM Einrichtung:: Klinik und Poliklinik für Kinderheilkunde und Jugendmedizin
BibTeX

Vorkommen: