Matches in SemOpenAlex for { <https://semopenalex.org/work/W2029941630> ?p ?o ?g. }
Showing items 1 to 73 of
73
with 100 items per page.
- W2029941630 abstract "LEOPARD syndrome (LS) is a congenital developmental disorder and is an acronym for multiple lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonary stenosis, abnormalities of genitalia, retardation of growth, and sensorineural deafness (1). These clinical features overlap those of Noonan syndrome (NS), and heterozygous germline PTPN11 mutations have been identified in approximately 45% of NS patients and in >80% of LS patients (1). Herein, we report a novel mutation of PTPN11 in a female with LS." @default.
- W2029941630 created "2016-06-24" @default.
- W2029941630 creator A5008536405 @default.
- W2029941630 creator A5083479678 @default.
- W2029941630 date "2008-01-01" @default.
- W2029941630 modified "2023-09-24" @default.
- W2029941630 title "A Novel A461S Mutation of PTPN11 in a Female with LEOPARD Syndrome" @default.
- W2029941630 cites W1973176514 @default.
- W2029941630 cites W2092800497 @default.
- W2029941630 cites W2124171936 @default.
- W2029941630 cites W2142271737 @default.
- W2029941630 cites W2148680726 @default.
- W2029941630 doi "https://doi.org/10.1297/cpe.17.121" @default.
- W2029941630 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/4004829" @default.
- W2029941630 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/24790373" @default.
- W2029941630 hasPublicationYear "2008" @default.
- W2029941630 type Work @default.
- W2029941630 sameAs 2029941630 @default.
- W2029941630 citedByCount "0" @default.
- W2029941630 crossrefType "journal-article" @default.
- W2029941630 hasAuthorship W2029941630A5008536405 @default.
- W2029941630 hasAuthorship W2029941630A5083479678 @default.
- W2029941630 hasBestOaLocation W20299416301 @default.
- W2029941630 hasConcept C104317684 @default.
- W2029941630 hasConcept C105702510 @default.
- W2029941630 hasConcept C121608353 @default.
- W2029941630 hasConcept C126322002 @default.
- W2029941630 hasConcept C13514818 @default.
- W2029941630 hasConcept C16005928 @default.
- W2029941630 hasConcept C2776149932 @default.
- W2029941630 hasConcept C2779286207 @default.
- W2029941630 hasConcept C2781187634 @default.
- W2029941630 hasConcept C31734879 @default.
- W2029941630 hasConcept C501734568 @default.
- W2029941630 hasConcept C526805850 @default.
- W2029941630 hasConcept C54355233 @default.
- W2029941630 hasConcept C71924100 @default.
- W2029941630 hasConcept C86803240 @default.
- W2029941630 hasConceptScore W2029941630C104317684 @default.
- W2029941630 hasConceptScore W2029941630C105702510 @default.
- W2029941630 hasConceptScore W2029941630C121608353 @default.
- W2029941630 hasConceptScore W2029941630C126322002 @default.
- W2029941630 hasConceptScore W2029941630C13514818 @default.
- W2029941630 hasConceptScore W2029941630C16005928 @default.
- W2029941630 hasConceptScore W2029941630C2776149932 @default.
- W2029941630 hasConceptScore W2029941630C2779286207 @default.
- W2029941630 hasConceptScore W2029941630C2781187634 @default.
- W2029941630 hasConceptScore W2029941630C31734879 @default.
- W2029941630 hasConceptScore W2029941630C501734568 @default.
- W2029941630 hasConceptScore W2029941630C526805850 @default.
- W2029941630 hasConceptScore W2029941630C54355233 @default.
- W2029941630 hasConceptScore W2029941630C71924100 @default.
- W2029941630 hasConceptScore W2029941630C86803240 @default.
- W2029941630 hasLocation W20299416301 @default.
- W2029941630 hasLocation W20299416302 @default.
- W2029941630 hasLocation W20299416303 @default.
- W2029941630 hasLocation W20299416304 @default.
- W2029941630 hasOpenAccess W2029941630 @default.
- W2029941630 hasPrimaryLocation W20299416301 @default.
- W2029941630 hasRelatedWork W1948503659 @default.
- W2029941630 hasRelatedWork W2028961943 @default.
- W2029941630 hasRelatedWork W2049606122 @default.
- W2029941630 hasRelatedWork W2060530145 @default.
- W2029941630 hasRelatedWork W2125583390 @default.
- W2029941630 hasRelatedWork W2146849562 @default.
- W2029941630 hasRelatedWork W2165369124 @default.
- W2029941630 hasRelatedWork W2417766600 @default.
- W2029941630 hasRelatedWork W2464806709 @default.
- W2029941630 hasRelatedWork W2980107617 @default.
- W2029941630 isParatext "false" @default.
- W2029941630 isRetracted "false" @default.
- W2029941630 magId "2029941630" @default.
- W2029941630 workType "article" @default.