Matches in SemOpenAlex for { <https://semopenalex.org/work/W2051209422> ?p ?o ?g. }
- W2051209422 endingPage "604" @default.
- W2051209422 startingPage "602" @default.
- W2051209422 abstract "Germline mutations in PTPN11 gene cause Noonan syndrome and the clinically similar LEOPARD syndrome (LS). LS is a rare congenital developmental disorder characterized by multiple lentigines, cardiac abnormalities, facial dysmorphism, retardation of growth, and deafness. Mutations in exons 7 and 12 of the PTPN11 gene can be identified in nearly 90% of patients with LS. PTPN11 gene encodes for an ubiquitously expressed protein tyrosine phosphatase SHP-2 involved in a variety of intracellular signaling processes in development and hematopoiesis. Somatic PTPN11 mutations contribute to leukemogenesis in children with hematologic malignancies including juvenile myelomonocytic leukemia, acute lymphoblastic leukemia, acute myeloid leukemia, and myelodysplasia. Two cases of leukemia (acute myeloid leukemia) have been reported in children with LS. The authors describe for the first time a girl with genetically confirmed LEOPARD syndrome presenting with common acute lymphoblastic leukemia." @default.
- W2051209422 created "2016-06-24" @default.
- W2051209422 creator A5056047830 @default.
- W2051209422 creator A5056934034 @default.
- W2051209422 creator A5075952597 @default.
- W2051209422 date "2008-08-01" @default.
- W2051209422 modified "2023-10-16" @default.
- W2051209422 title "Common Acute Lymphoblastic Leukemia in a Girl With Genetically Confirmed LEOPARD Syndrome" @default.
- W2051209422 cites W1971904189 @default.
- W2051209422 cites W1985188811 @default.
- W2051209422 cites W1985299313 @default.
- W2051209422 cites W1995612782 @default.
- W2051209422 cites W2000417172 @default.
- W2051209422 cites W2011653532 @default.
- W2051209422 cites W2012487600 @default.
- W2051209422 cites W2015559261 @default.
- W2051209422 cites W2019428976 @default.
- W2051209422 cites W2070085859 @default.
- W2051209422 cites W2084440639 @default.
- W2051209422 cites W2124171936 @default.
- W2051209422 cites W2132298090 @default.
- W2051209422 cites W2133770788 @default.
- W2051209422 cites W2144844081 @default.
- W2051209422 cites W2151347425 @default.
- W2051209422 cites W2159532830 @default.
- W2051209422 cites W2313239467 @default.
- W2051209422 cites W59733412 @default.
- W2051209422 doi "https://doi.org/10.1097/mph.0b013e31817588fb" @default.
- W2051209422 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/18799937" @default.
- W2051209422 hasPublicationYear "2008" @default.
- W2051209422 type Work @default.
- W2051209422 sameAs 2051209422 @default.
- W2051209422 citedByCount "20" @default.
- W2051209422 countsByYear W20512094222012 @default.
- W2051209422 countsByYear W20512094222013 @default.
- W2051209422 countsByYear W20512094222015 @default.
- W2051209422 countsByYear W20512094222016 @default.
- W2051209422 countsByYear W20512094222019 @default.
- W2051209422 countsByYear W20512094222020 @default.
- W2051209422 countsByYear W20512094222021 @default.
- W2051209422 countsByYear W20512094222022 @default.
- W2051209422 crossrefType "journal-article" @default.
- W2051209422 hasAuthorship W2051209422A5056047830 @default.
- W2051209422 hasAuthorship W2051209422A5056934034 @default.
- W2051209422 hasAuthorship W2051209422A5075952597 @default.
- W2051209422 hasConcept C104317684 @default.
- W2051209422 hasConcept C109159458 @default.
- W2051209422 hasConcept C121608353 @default.
- W2051209422 hasConcept C126322002 @default.
- W2051209422 hasConcept C13514818 @default.
- W2051209422 hasConcept C203014093 @default.
- W2051209422 hasConcept C2776149932 @default.
- W2051209422 hasConcept C2776863199 @default.
- W2051209422 hasConcept C2778461978 @default.
- W2051209422 hasConcept C2778729363 @default.
- W2051209422 hasConcept C2779157977 @default.
- W2051209422 hasConcept C2779282312 @default.
- W2051209422 hasConcept C2781107101 @default.
- W2051209422 hasConcept C2781187634 @default.
- W2051209422 hasConcept C28328180 @default.
- W2051209422 hasConcept C2909962599 @default.
- W2051209422 hasConcept C31734879 @default.
- W2051209422 hasConcept C501734568 @default.
- W2051209422 hasConcept C502942594 @default.
- W2051209422 hasConcept C526805850 @default.
- W2051209422 hasConcept C54355233 @default.
- W2051209422 hasConcept C71924100 @default.
- W2051209422 hasConcept C86803240 @default.
- W2051209422 hasConceptScore W2051209422C104317684 @default.
- W2051209422 hasConceptScore W2051209422C109159458 @default.
- W2051209422 hasConceptScore W2051209422C121608353 @default.
- W2051209422 hasConceptScore W2051209422C126322002 @default.
- W2051209422 hasConceptScore W2051209422C13514818 @default.
- W2051209422 hasConceptScore W2051209422C203014093 @default.
- W2051209422 hasConceptScore W2051209422C2776149932 @default.
- W2051209422 hasConceptScore W2051209422C2776863199 @default.
- W2051209422 hasConceptScore W2051209422C2778461978 @default.
- W2051209422 hasConceptScore W2051209422C2778729363 @default.
- W2051209422 hasConceptScore W2051209422C2779157977 @default.
- W2051209422 hasConceptScore W2051209422C2779282312 @default.
- W2051209422 hasConceptScore W2051209422C2781107101 @default.
- W2051209422 hasConceptScore W2051209422C2781187634 @default.
- W2051209422 hasConceptScore W2051209422C28328180 @default.
- W2051209422 hasConceptScore W2051209422C2909962599 @default.
- W2051209422 hasConceptScore W2051209422C31734879 @default.
- W2051209422 hasConceptScore W2051209422C501734568 @default.
- W2051209422 hasConceptScore W2051209422C502942594 @default.
- W2051209422 hasConceptScore W2051209422C526805850 @default.
- W2051209422 hasConceptScore W2051209422C54355233 @default.
- W2051209422 hasConceptScore W2051209422C71924100 @default.
- W2051209422 hasConceptScore W2051209422C86803240 @default.
- W2051209422 hasIssue "8" @default.
- W2051209422 hasLocation W20512094221 @default.
- W2051209422 hasLocation W20512094222 @default.
- W2051209422 hasOpenAccess W2051209422 @default.
- W2051209422 hasPrimaryLocation W20512094221 @default.
- W2051209422 hasRelatedWork W2011653532 @default.
- W2051209422 hasRelatedWork W2039649242 @default.