Matches in SemOpenAlex for { <https://semopenalex.org/work/W3157348524> ?p ?o ?g. }
Showing items 1 to 92 of
92
with 100 items per page.
- W3157348524 endingPage "104213" @default.
- W3157348524 startingPage "104213" @default.
- W3157348524 abstract "Holt-Oram syndrome (HOS) is a rare, autosomal dominant heart-hand syndrome caused by mutations in the TBX5 gene. A wide spectrum of TBX5 mutations have been reported previously, most resulting in a null allele leading to haploinsufficiency. TBX5 gene duplications have been previously reported in association with typical and atypical HOS phenotypes. Ulnar-Mammary syndrome (UMS) is a distinct rare, autosomal dominant condition caused by mutations in the TBX3 gene. TBX5 and TBX3 are physically linked in cis on human chromosome 12 and contiguous chromosome 12q24 deletions comprising both TBX5 and TBX3 genes have been previously reported but to our knowledge, duplications have never been described. We report on a large German family with at least 17 affected individuals over 6 generations bearing a duplication at 12q24.21 identified on array-CGH comprising both TBX5 and TBX3 genes. Affected patients are presenting with HOS and UMS symptoms, consisting of variable limb anomalies involving the radial and the ulnar rays and cardiac findings such as congenital heart defects, persistent arterial duct or aortic stenosis, and non-classical symptoms, such as supernumerary nipples and cardiomyopathy. Fluorescence in situ hybridisation confirmed a tandem duplication at the 12q24.21 locus. This is the first report of a contiguous TBX3/TBX5 duplication associated with HOS/UMS phenotype." @default.
- W3157348524 created "2021-05-10" @default.
- W3157348524 creator A5007628163 @default.
- W3157348524 creator A5019467915 @default.
- W3157348524 creator A5020913713 @default.
- W3157348524 creator A5028087382 @default.
- W3157348524 creator A5048599044 @default.
- W3157348524 creator A5053649723 @default.
- W3157348524 creator A5054597319 @default.
- W3157348524 creator A5066212373 @default.
- W3157348524 creator A5067823709 @default.
- W3157348524 creator A5086631630 @default.
- W3157348524 date "2021-07-01" @default.
- W3157348524 modified "2023-09-26" @default.
- W3157348524 title "TBX3 and TBX5 duplication: A family with an atypical overlapping Holt-Oram/ulnar-mammary syndrome phenotype" @default.
- W3157348524 cites W1984231898 @default.
- W3157348524 cites W2000797432 @default.
- W3157348524 cites W2018892038 @default.
- W3157348524 cites W2021856111 @default.
- W3157348524 cites W2023538745 @default.
- W3157348524 cites W2028496876 @default.
- W3157348524 cites W2055073263 @default.
- W3157348524 cites W2062081131 @default.
- W3157348524 cites W2067973614 @default.
- W3157348524 cites W2070326791 @default.
- W3157348524 cites W2070530270 @default.
- W3157348524 cites W2078475439 @default.
- W3157348524 cites W2099883675 @default.
- W3157348524 cites W2127387556 @default.
- W3157348524 cites W2166357049 @default.
- W3157348524 cites W2231178557 @default.
- W3157348524 cites W2522079364 @default.
- W3157348524 cites W2756486586 @default.
- W3157348524 cites W2903697769 @default.
- W3157348524 cites W2909462977 @default.
- W3157348524 doi "https://doi.org/10.1016/j.ejmg.2021.104213" @default.
- W3157348524 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/33930582" @default.
- W3157348524 hasPublicationYear "2021" @default.
- W3157348524 type Work @default.
- W3157348524 sameAs 3157348524 @default.
- W3157348524 citedByCount "3" @default.
- W3157348524 countsByYear W31573485242022 @default.
- W3157348524 countsByYear W31573485242023 @default.
- W3157348524 crossrefType "journal-article" @default.
- W3157348524 hasAuthorship W3157348524A5007628163 @default.
- W3157348524 hasAuthorship W3157348524A5019467915 @default.
- W3157348524 hasAuthorship W3157348524A5020913713 @default.
- W3157348524 hasAuthorship W3157348524A5028087382 @default.
- W3157348524 hasAuthorship W3157348524A5048599044 @default.
- W3157348524 hasAuthorship W3157348524A5053649723 @default.
- W3157348524 hasAuthorship W3157348524A5054597319 @default.
- W3157348524 hasAuthorship W3157348524A5066212373 @default.
- W3157348524 hasAuthorship W3157348524A5067823709 @default.
- W3157348524 hasAuthorship W3157348524A5086631630 @default.
- W3157348524 hasConcept C104317684 @default.
- W3157348524 hasConcept C127716648 @default.
- W3157348524 hasConcept C54355233 @default.
- W3157348524 hasConcept C57708383 @default.
- W3157348524 hasConcept C68838962 @default.
- W3157348524 hasConcept C7602840 @default.
- W3157348524 hasConcept C84597430 @default.
- W3157348524 hasConcept C86803240 @default.
- W3157348524 hasConceptScore W3157348524C104317684 @default.
- W3157348524 hasConceptScore W3157348524C127716648 @default.
- W3157348524 hasConceptScore W3157348524C54355233 @default.
- W3157348524 hasConceptScore W3157348524C57708383 @default.
- W3157348524 hasConceptScore W3157348524C68838962 @default.
- W3157348524 hasConceptScore W3157348524C7602840 @default.
- W3157348524 hasConceptScore W3157348524C84597430 @default.
- W3157348524 hasConceptScore W3157348524C86803240 @default.
- W3157348524 hasIssue "7" @default.
- W3157348524 hasLocation W31573485241 @default.
- W3157348524 hasLocation W31573485242 @default.
- W3157348524 hasOpenAccess W3157348524 @default.
- W3157348524 hasPrimaryLocation W31573485241 @default.
- W3157348524 hasRelatedWork W1999232590 @default.
- W3157348524 hasRelatedWork W2043199743 @default.
- W3157348524 hasRelatedWork W2052503449 @default.
- W3157348524 hasRelatedWork W2075480531 @default.
- W3157348524 hasRelatedWork W2082080217 @default.
- W3157348524 hasRelatedWork W2099797129 @default.
- W3157348524 hasRelatedWork W2130809217 @default.
- W3157348524 hasRelatedWork W318050214 @default.
- W3157348524 hasRelatedWork W4233150668 @default.
- W3157348524 hasRelatedWork W4235574786 @default.
- W3157348524 hasVolume "64" @default.
- W3157348524 isParatext "false" @default.
- W3157348524 isRetracted "false" @default.
- W3157348524 magId "3157348524" @default.
- W3157348524 workType "article" @default.