Matches in SemOpenAlex for { <https://semopenalex.org/work/W2769893834> ?p ?o ?g. }
Showing items 1 to 81 of
81
with 100 items per page.
- W2769893834 endingPage "224" @default.
- W2769893834 startingPage "219" @default.
- W2769893834 abstract "We report a family of Indian origin presenting with Tarsal-carpal coalition syndrome (TCC), which is a rare genetic disorder of skeletal abnormalities, inherited in autosomal dominant manner. In this family, three individuals (mother and two children) were found to be similarly affected with slight intrafamilial individual variability in the phenotype. Sanger sequencing revealed a novel heterozygous missense mutation in NOG gene (NM_005450.4:c.611G>A) in all the affected individuals of the family. Until now only six mutations have been reported in different families affected with TCC syndrome worldwide. This report further delineates the phenotypic spectrum of this rare disorder with the addition of a new variant to the mutation spectrum." @default.
- W2769893834 created "2017-12-04" @default.
- W2769893834 creator A5008773486 @default.
- W2769893834 creator A5054518866 @default.
- W2769893834 creator A5071072710 @default.
- W2769893834 date "2017-11-21" @default.
- W2769893834 modified "2023-10-01" @default.
- W2769893834 title "Tarsal-carpal coalition syndrome: Report of a novel missense mutation in <i>NOG</i> gene and phenotypic delineation" @default.
- W2769893834 cites W136038944 @default.
- W2769893834 cites W1608507417 @default.
- W2769893834 cites W1969880631 @default.
- W2769893834 cites W1970413157 @default.
- W2769893834 cites W1980740976 @default.
- W2769893834 cites W2003812076 @default.
- W2769893834 cites W2004458059 @default.
- W2769893834 cites W2015160990 @default.
- W2769893834 cites W2032019813 @default.
- W2769893834 cites W2033904138 @default.
- W2769893834 cites W2052071684 @default.
- W2769893834 cites W2059145105 @default.
- W2769893834 cites W2085344957 @default.
- W2769893834 cites W2090778914 @default.
- W2769893834 cites W2116601279 @default.
- W2769893834 cites W2129934354 @default.
- W2769893834 cites W2160995259 @default.
- W2769893834 cites W2162098634 @default.
- W2769893834 cites W2535426958 @default.
- W2769893834 doi "https://doi.org/10.1002/ajmg.a.38544" @default.
- W2769893834 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/29159868" @default.
- W2769893834 hasPublicationYear "2017" @default.
- W2769893834 type Work @default.
- W2769893834 sameAs 2769893834 @default.
- W2769893834 citedByCount "9" @default.
- W2769893834 countsByYear W27698938342019 @default.
- W2769893834 countsByYear W27698938342020 @default.
- W2769893834 countsByYear W27698938342021 @default.
- W2769893834 countsByYear W27698938342022 @default.
- W2769893834 countsByYear W27698938342023 @default.
- W2769893834 crossrefType "journal-article" @default.
- W2769893834 hasAuthorship W2769893834A5008773486 @default.
- W2769893834 hasAuthorship W2769893834A5054518866 @default.
- W2769893834 hasAuthorship W2769893834A5071072710 @default.
- W2769893834 hasConcept C104317684 @default.
- W2769893834 hasConcept C12125453 @default.
- W2769893834 hasConcept C127716648 @default.
- W2769893834 hasConcept C501734568 @default.
- W2769893834 hasConcept C54355233 @default.
- W2769893834 hasConcept C75563809 @default.
- W2769893834 hasConcept C76818968 @default.
- W2769893834 hasConcept C86803240 @default.
- W2769893834 hasConceptScore W2769893834C104317684 @default.
- W2769893834 hasConceptScore W2769893834C12125453 @default.
- W2769893834 hasConceptScore W2769893834C127716648 @default.
- W2769893834 hasConceptScore W2769893834C501734568 @default.
- W2769893834 hasConceptScore W2769893834C54355233 @default.
- W2769893834 hasConceptScore W2769893834C75563809 @default.
- W2769893834 hasConceptScore W2769893834C76818968 @default.
- W2769893834 hasConceptScore W2769893834C86803240 @default.
- W2769893834 hasFunder F4320334771 @default.
- W2769893834 hasIssue "1" @default.
- W2769893834 hasLocation W27698938341 @default.
- W2769893834 hasLocation W27698938342 @default.
- W2769893834 hasOpenAccess W2769893834 @default.
- W2769893834 hasPrimaryLocation W27698938341 @default.
- W2769893834 hasRelatedWork W1988368560 @default.
- W2769893834 hasRelatedWork W2244346197 @default.
- W2769893834 hasRelatedWork W2428094171 @default.
- W2769893834 hasRelatedWork W2623947808 @default.
- W2769893834 hasRelatedWork W2795214204 @default.
- W2769893834 hasRelatedWork W2920096867 @default.
- W2769893834 hasRelatedWork W3024168541 @default.
- W2769893834 hasRelatedWork W3024306633 @default.
- W2769893834 hasRelatedWork W3024578347 @default.
- W2769893834 hasRelatedWork W3151508911 @default.
- W2769893834 hasVolume "176" @default.
- W2769893834 isParatext "false" @default.
- W2769893834 isRetracted "false" @default.
- W2769893834 magId "2769893834" @default.
- W2769893834 workType "article" @default.