Matches in SemOpenAlex for { <https://semopenalex.org/work/W135824410> ?p ?o ?g. }
Showing items 1 to 96 of
96
with 100 items per page.
- W135824410 endingPage "8" @default.
- W135824410 startingPage "1173" @default.
- W135824410 abstract "In a large kindred including many individuals affected with Waardenburg (WS) type 1 (WS1) syndrome, a child affected with a very severe form of WS type 3 was born. This child presented with dystopia canthorum, partial albinism, and very severe upper-limb defects. His parents were first cousins, both affected with a mild form of WS1. Molecular analysis of PAX3, the gene that was determined by linkage to cause the disorder in the family, demonstrated a novel missense mutation (S84F) in exon 2 of PAX3 within the paired box. While individuals affected with WS1 were heterozygous for the mutation, the child with WS3 was homozygous for S84F. The observation that the PAX3 homozygote in humans may allow life at least in early infancy and does not cause neural tube defects was unexpected, since, in all the mutations known in mice (splotch), homozygosity has led to severe neural tube defects and intrauterine or neonatal death." @default.
- W135824410 created "2016-06-24" @default.
- W135824410 creator A5013223284 @default.
- W135824410 creator A5046611419 @default.
- W135824410 creator A5052569254 @default.
- W135824410 creator A5056827554 @default.
- W135824410 creator A5075373247 @default.
- W135824410 date "1995-05-01" @default.
- W135824410 modified "2023-10-01" @default.
- W135824410 title "Homozygosity for Waardenburg syndrome." @default.
- W135824410 cites W1549470101 @default.
- W135824410 cites W1567829440 @default.
- W135824410 cites W1576876710 @default.
- W135824410 cites W1596733933 @default.
- W135824410 cites W1966566830 @default.
- W135824410 cites W1967518747 @default.
- W135824410 cites W2007085852 @default.
- W135824410 cites W2015615191 @default.
- W135824410 cites W2050589769 @default.
- W135824410 cites W2062230646 @default.
- W135824410 cites W2079266222 @default.
- W135824410 cites W2083351769 @default.
- W135824410 cites W2098342899 @default.
- W135824410 cites W2123942179 @default.
- W135824410 cites W2138618430 @default.
- W135824410 cites W2141934953 @default.
- W135824410 cites W2142653567 @default.
- W135824410 cites W4213387034 @default.
- W135824410 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/1801439" @default.
- W135824410 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/7726174" @default.
- W135824410 hasPublicationYear "1995" @default.
- W135824410 type Work @default.
- W135824410 sameAs 135824410 @default.
- W135824410 citedByCount "31" @default.
- W135824410 countsByYear W1358244102013 @default.
- W135824410 countsByYear W1358244102015 @default.
- W135824410 countsByYear W1358244102016 @default.
- W135824410 countsByYear W1358244102017 @default.
- W135824410 countsByYear W1358244102018 @default.
- W135824410 countsByYear W1358244102021 @default.
- W135824410 countsByYear W1358244102022 @default.
- W135824410 crossrefType "journal-article" @default.
- W135824410 hasAuthorship W135824410A5013223284 @default.
- W135824410 hasAuthorship W135824410A5046611419 @default.
- W135824410 hasAuthorship W135824410A5052569254 @default.
- W135824410 hasAuthorship W135824410A5056827554 @default.
- W135824410 hasAuthorship W135824410A5075373247 @default.
- W135824410 hasConcept C104317684 @default.
- W135824410 hasConcept C127716648 @default.
- W135824410 hasConcept C142870003 @default.
- W135824410 hasConcept C168609215 @default.
- W135824410 hasConcept C196843134 @default.
- W135824410 hasConcept C2775902910 @default.
- W135824410 hasConcept C2777259899 @default.
- W135824410 hasConcept C2780594696 @default.
- W135824410 hasConcept C36823959 @default.
- W135824410 hasConcept C501734568 @default.
- W135824410 hasConcept C54355233 @default.
- W135824410 hasConcept C75563809 @default.
- W135824410 hasConcept C86339819 @default.
- W135824410 hasConcept C86803240 @default.
- W135824410 hasConceptScore W135824410C104317684 @default.
- W135824410 hasConceptScore W135824410C127716648 @default.
- W135824410 hasConceptScore W135824410C142870003 @default.
- W135824410 hasConceptScore W135824410C168609215 @default.
- W135824410 hasConceptScore W135824410C196843134 @default.
- W135824410 hasConceptScore W135824410C2775902910 @default.
- W135824410 hasConceptScore W135824410C2777259899 @default.
- W135824410 hasConceptScore W135824410C2780594696 @default.
- W135824410 hasConceptScore W135824410C36823959 @default.
- W135824410 hasConceptScore W135824410C501734568 @default.
- W135824410 hasConceptScore W135824410C54355233 @default.
- W135824410 hasConceptScore W135824410C75563809 @default.
- W135824410 hasConceptScore W135824410C86339819 @default.
- W135824410 hasConceptScore W135824410C86803240 @default.
- W135824410 hasIssue "5" @default.
- W135824410 hasLocation W1358244101 @default.
- W135824410 hasOpenAccess W135824410 @default.
- W135824410 hasPrimaryLocation W1358244101 @default.
- W135824410 hasRelatedWork W135824410 @default.
- W135824410 hasRelatedWork W2021218544 @default.
- W135824410 hasRelatedWork W2033835945 @default.
- W135824410 hasRelatedWork W2108354335 @default.
- W135824410 hasRelatedWork W2126204888 @default.
- W135824410 hasRelatedWork W2133154334 @default.
- W135824410 hasRelatedWork W2160951420 @default.
- W135824410 hasRelatedWork W242600280 @default.
- W135824410 hasRelatedWork W3811461 @default.
- W135824410 hasRelatedWork W4254875775 @default.
- W135824410 hasVolume "56" @default.
- W135824410 isParatext "false" @default.
- W135824410 isRetracted "false" @default.
- W135824410 magId "135824410" @default.
- W135824410 workType "article" @default.