Matches in SemOpenAlex for { <https://semopenalex.org/work/W2025790767> ?p ?o ?g. }
Showing items 1 to 98 of
98
with 100 items per page.
- W2025790767 endingPage "2715" @default.
- W2025790767 startingPage "2712" @default.
- W2025790767 abstract "CHARGE syndrome is characterized by a wide clinical variability. During the past years the phenotypic spectrum was markedly expanded. Limb anomalies were initially not recognized as part of the phenotype but more recently mild limb anomalies were described in approximately 30% of the patients. We report on three patients with several major features of CHARGE syndrome who, in addition, presented severe limb anomalies including monodactyly, tibia aplasia, and bifid femora. Three different heterozygous truncating mutations in the CHD7 gene were detected. It has been hypothesized before that the CHARGE syndrome is caused by a disruption of mesenchymal-epithelial interaction. Given the expression of the CHD7 gene in the developing limb bud, it was anticipated that limb defects would belong to the spectrum of manifestations of CHARGE syndrome. The present observations provide further support to this hypothesis." @default.
- W2025790767 created "2016-06-24" @default.
- W2025790767 creator A5036405591 @default.
- W2025790767 creator A5038816338 @default.
- W2025790767 creator A5073354779 @default.
- W2025790767 creator A5073467702 @default.
- W2025790767 creator A5074421387 @default.
- W2025790767 creator A5078255826 @default.
- W2025790767 date "2007-01-01" @default.
- W2025790767 modified "2023-10-16" @default.
- W2025790767 title "Limb anomalies in patients with CHARGE syndrome: An expansion of the phenotype" @default.
- W2025790767 cites W1991683917 @default.
- W2025790767 cites W1992576888 @default.
- W2025790767 cites W2022136662 @default.
- W2025790767 cites W2036969410 @default.
- W2025790767 cites W2054901410 @default.
- W2025790767 cites W2055950761 @default.
- W2025790767 cites W2070562883 @default.
- W2025790767 cites W2074802551 @default.
- W2025790767 cites W2092710299 @default.
- W2025790767 cites W2092760175 @default.
- W2025790767 cites W2108643514 @default.
- W2025790767 cites W2109146409 @default.
- W2025790767 cites W2116040812 @default.
- W2025790767 cites W2118713497 @default.
- W2025790767 cites W2154900242 @default.
- W2025790767 cites W2170421665 @default.
- W2025790767 doi "https://doi.org/10.1002/ajmg.a.32008" @default.
- W2025790767 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/17937444" @default.
- W2025790767 hasPublicationYear "2007" @default.
- W2025790767 type Work @default.
- W2025790767 sameAs 2025790767 @default.
- W2025790767 citedByCount "28" @default.
- W2025790767 countsByYear W20257907672012 @default.
- W2025790767 countsByYear W20257907672013 @default.
- W2025790767 countsByYear W20257907672014 @default.
- W2025790767 countsByYear W20257907672015 @default.
- W2025790767 countsByYear W20257907672016 @default.
- W2025790767 countsByYear W20257907672017 @default.
- W2025790767 countsByYear W20257907672018 @default.
- W2025790767 countsByYear W20257907672020 @default.
- W2025790767 countsByYear W20257907672021 @default.
- W2025790767 countsByYear W20257907672023 @default.
- W2025790767 crossrefType "journal-article" @default.
- W2025790767 hasAuthorship W2025790767A5036405591 @default.
- W2025790767 hasAuthorship W2025790767A5038816338 @default.
- W2025790767 hasAuthorship W2025790767A5073354779 @default.
- W2025790767 hasAuthorship W2025790767A5073467702 @default.
- W2025790767 hasAuthorship W2025790767A5074421387 @default.
- W2025790767 hasAuthorship W2025790767A5078255826 @default.
- W2025790767 hasConcept C104317684 @default.
- W2025790767 hasConcept C105702510 @default.
- W2025790767 hasConcept C127716648 @default.
- W2025790767 hasConcept C141071460 @default.
- W2025790767 hasConcept C2777236700 @default.
- W2025790767 hasConcept C2778368355 @default.
- W2025790767 hasConcept C2781095467 @default.
- W2025790767 hasConcept C2989316616 @default.
- W2025790767 hasConcept C501734568 @default.
- W2025790767 hasConcept C54355233 @default.
- W2025790767 hasConcept C71924100 @default.
- W2025790767 hasConcept C86370654 @default.
- W2025790767 hasConcept C86803240 @default.
- W2025790767 hasConceptScore W2025790767C104317684 @default.
- W2025790767 hasConceptScore W2025790767C105702510 @default.
- W2025790767 hasConceptScore W2025790767C127716648 @default.
- W2025790767 hasConceptScore W2025790767C141071460 @default.
- W2025790767 hasConceptScore W2025790767C2777236700 @default.
- W2025790767 hasConceptScore W2025790767C2778368355 @default.
- W2025790767 hasConceptScore W2025790767C2781095467 @default.
- W2025790767 hasConceptScore W2025790767C2989316616 @default.
- W2025790767 hasConceptScore W2025790767C501734568 @default.
- W2025790767 hasConceptScore W2025790767C54355233 @default.
- W2025790767 hasConceptScore W2025790767C71924100 @default.
- W2025790767 hasConceptScore W2025790767C86370654 @default.
- W2025790767 hasConceptScore W2025790767C86803240 @default.
- W2025790767 hasIssue "22" @default.
- W2025790767 hasLocation W20257907671 @default.
- W2025790767 hasLocation W20257907672 @default.
- W2025790767 hasOpenAccess W2025790767 @default.
- W2025790767 hasPrimaryLocation W20257907671 @default.
- W2025790767 hasRelatedWork W1530402712 @default.
- W2025790767 hasRelatedWork W2025790767 @default.
- W2025790767 hasRelatedWork W2039633795 @default.
- W2025790767 hasRelatedWork W2121760608 @default.
- W2025790767 hasRelatedWork W2125731289 @default.
- W2025790767 hasRelatedWork W2132993604 @default.
- W2025790767 hasRelatedWork W2143066563 @default.
- W2025790767 hasRelatedWork W2149447718 @default.
- W2025790767 hasRelatedWork W2157166663 @default.
- W2025790767 hasRelatedWork W3032357680 @default.
- W2025790767 hasVolume "143A" @default.
- W2025790767 isParatext "false" @default.
- W2025790767 isRetracted "false" @default.
- W2025790767 magId "2025790767" @default.
- W2025790767 workType "article" @default.