Document Detail

Lethal proliferation of erythroid precursors in a neonate with a germline PTPN11 mutation.
MedLine Citation:
PMID:  16369799     Owner:  NLM     Status:  MEDLINE    
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.
Christian Peter Kratz; Michaela Nathrath; Peter Freisinger; Petra Dressel; Hans-Peter Assmuss; Cornelia Klein; Ayami Yoshimi; Stefan Burdach; Charlotte Marie Niemeyer
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't     Date:  2005-12-21
Journal Detail:
Title:  European journal of pediatrics     Volume:  165     ISSN:  0340-6199     ISO Abbreviation:  Eur. J. Pediatr.     Publication Date:  2006 Mar 
Date Detail:
Created Date:  2006-02-03     Completed Date:  2006-07-13     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  7603873     Medline TA:  Eur J Pediatr     Country:  Germany    
Other Details:
Languages:  eng     Pagination:  182-5     Citation Subset:  IM    
Department of Pediatrics and Adolescent Medicine, University of Freiburg, Freiburg, Germany.
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MeSH Terms
Diagnosis, Differential
Fatal Outcome
Germ-Line Mutation
Infant, Newborn
Noonan Syndrome / diagnosis*,  genetics

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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