Matches in SemOpenAlex for { <https://semopenalex.org/work/W2893140799> ?p ?o ?g. }
Showing items 1 to 96 of
96
with 100 items per page.
- W2893140799 endingPage "1224" @default.
- W2893140799 startingPage "1220" @default.
- W2893140799 abstract "Hemophilia B is an X-linked recessive disorder caused by mutations in the F9 on Xq27.1. Mainly males are affected but about 20% of female carriers have clotting factor IX activity below 0.40 IU/ml and bleeding problems. Fragile-X syndrome (FMR1) and FRAXE syndrome (AFF2) are well-known causes of X-linked recessive intellectual disability. Simultaneous deletion of both FMR1 and AFF2 in males results in severe intellectual disability. In females the phenotype is more variable. We report a 19-year-old female with severe intellectual disability and a long-standing bleeding history.A SNP array analysis (Illumina Human Cyto 12-SNP genotyping array) and sequencing of F9 were performed. Laboratory tests were performed to evaluate the bleeding diathesis.Our patient was diagnosed with mild hemophilia B after finding an 11 Mb deletion of Xq26.3q28 that included the following genes among others IDS, SOX3, FMR1, AFF2, and F9.The case history demonstrates that a severe bleeding tendency suggestive of a hemostasis defect in patients with intellectual disability warrants careful hematological and genetic work-up even in the absence of a positive family history." @default.
- W2893140799 created "2018-10-05" @default.
- W2893140799 creator A5002870795 @default.
- W2893140799 creator A5032116456 @default.
- W2893140799 creator A5050460226 @default.
- W2893140799 creator A5057374835 @default.
- W2893140799 creator A5058515185 @default.
- W2893140799 creator A5090296015 @default.
- W2893140799 date "2018-09-27" @default.
- W2893140799 modified "2023-10-10" @default.
- W2893140799 title "Hemophilia B in a female with intellectual disability caused by a deletion of Xq26.3q28 encompassing the F9" @default.
- W2893140799 cites W113984154 @default.
- W2893140799 cites W14317953 @default.
- W2893140799 cites W1790487356 @default.
- W2893140799 cites W1993159801 @default.
- W2893140799 cites W2001790005 @default.
- W2893140799 cites W2019686806 @default.
- W2893140799 cites W2025240234 @default.
- W2893140799 cites W2036729517 @default.
- W2893140799 cites W2044608570 @default.
- W2893140799 cites W2070697563 @default.
- W2893140799 cites W2087591634 @default.
- W2893140799 cites W2102604100 @default.
- W2893140799 cites W2108733962 @default.
- W2893140799 cites W2114315190 @default.
- W2893140799 cites W2121364109 @default.
- W2893140799 cites W2166352515 @default.
- W2893140799 cites W2505522003 @default.
- W2893140799 cites W2893140799 @default.
- W2893140799 doi "https://doi.org/10.1002/mgg3.425" @default.
- W2893140799 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/6305680" @default.
- W2893140799 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/30264515" @default.
- W2893140799 hasPublicationYear "2018" @default.
- W2893140799 type Work @default.
- W2893140799 sameAs 2893140799 @default.
- W2893140799 citedByCount "4" @default.
- W2893140799 countsByYear W28931407992020 @default.
- W2893140799 countsByYear W28931407992021 @default.
- W2893140799 crossrefType "journal-article" @default.
- W2893140799 hasAuthorship W2893140799A5002870795 @default.
- W2893140799 hasAuthorship W2893140799A5032116456 @default.
- W2893140799 hasAuthorship W2893140799A5050460226 @default.
- W2893140799 hasAuthorship W2893140799A5057374835 @default.
- W2893140799 hasAuthorship W2893140799A5058515185 @default.
- W2893140799 hasAuthorship W2893140799A5090296015 @default.
- W2893140799 hasBestOaLocation W28931407991 @default.
- W2893140799 hasConcept C104317684 @default.
- W2893140799 hasConcept C135763542 @default.
- W2893140799 hasConcept C139275648 @default.
- W2893140799 hasConcept C153209595 @default.
- W2893140799 hasConcept C203014093 @default.
- W2893140799 hasConcept C2776217217 @default.
- W2893140799 hasConcept C31467283 @default.
- W2893140799 hasConcept C54355233 @default.
- W2893140799 hasConcept C551499885 @default.
- W2893140799 hasConcept C71924100 @default.
- W2893140799 hasConcept C86803240 @default.
- W2893140799 hasConcept C89560881 @default.
- W2893140799 hasConceptScore W2893140799C104317684 @default.
- W2893140799 hasConceptScore W2893140799C135763542 @default.
- W2893140799 hasConceptScore W2893140799C139275648 @default.
- W2893140799 hasConceptScore W2893140799C153209595 @default.
- W2893140799 hasConceptScore W2893140799C203014093 @default.
- W2893140799 hasConceptScore W2893140799C2776217217 @default.
- W2893140799 hasConceptScore W2893140799C31467283 @default.
- W2893140799 hasConceptScore W2893140799C54355233 @default.
- W2893140799 hasConceptScore W2893140799C551499885 @default.
- W2893140799 hasConceptScore W2893140799C71924100 @default.
- W2893140799 hasConceptScore W2893140799C86803240 @default.
- W2893140799 hasConceptScore W2893140799C89560881 @default.
- W2893140799 hasIssue "6" @default.
- W2893140799 hasLocation W28931407991 @default.
- W2893140799 hasLocation W28931407992 @default.
- W2893140799 hasLocation W28931407993 @default.
- W2893140799 hasLocation W28931407994 @default.
- W2893140799 hasLocation W28931407995 @default.
- W2893140799 hasLocation W28931407996 @default.
- W2893140799 hasOpenAccess W2893140799 @default.
- W2893140799 hasPrimaryLocation W28931407991 @default.
- W2893140799 hasRelatedWork W2030447374 @default.
- W2893140799 hasRelatedWork W2087522537 @default.
- W2893140799 hasRelatedWork W2349105149 @default.
- W2893140799 hasRelatedWork W2353370357 @default.
- W2893140799 hasRelatedWork W2377518790 @default.
- W2893140799 hasRelatedWork W2378369506 @default.
- W2893140799 hasRelatedWork W2394359576 @default.
- W2893140799 hasRelatedWork W2463477745 @default.
- W2893140799 hasRelatedWork W2936024166 @default.
- W2893140799 hasRelatedWork W2970780691 @default.
- W2893140799 hasVolume "6" @default.
- W2893140799 isParatext "false" @default.
- W2893140799 isRetracted "false" @default.
- W2893140799 magId "2893140799" @default.
- W2893140799 workType "article" @default.