Matches in SemOpenAlex for { <https://semopenalex.org/work/W1722267265> ?p ?o ?g. }
Showing items 1 to 72 of
72
with 100 items per page.
- W1722267265 endingPage "33" @default.
- W1722267265 startingPage "529" @default.
- W1722267265 abstract "Cutis laxa comprises a group of uncommon disorders of elastin fibers first described by Graf in the early 19th century. The main characteristic is a redundant, loose skin with deep wrinkling or sagging combined with a variable systemic involvement. Histopathologic examination presents various abnormalities of the elastin fibers. We distinguish congenital as well as acquired forms of generalized or localized cutis laxa. The mode of inheritance shows great heterogeneity: autosomal dominant, autosomal recessive and X-linked recessive inheritance have all been described. We present a severe case of autosomal recessive type 1 cutis laxa in a female patient, born in a large, consanguineous Turkish family, where three other family members had already died of the disease. A missense mutation of fibulin-5 was identified in this patient." @default.
- W1722267265 created "2016-06-24" @default.
- W1722267265 creator A5005622653 @default.
- W1722267265 creator A5011017049 @default.
- W1722267265 creator A5038704651 @default.
- W1722267265 creator A5042051309 @default.
- W1722267265 creator A5053814224 @default.
- W1722267265 date "2004-01-15" @default.
- W1722267265 modified "2023-10-17" @default.
- W1722267265 title "Cutis laxa of the autosomal recessive type in a consanguineous family." @default.
- W1722267265 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/14721770" @default.
- W1722267265 hasPublicationYear "2004" @default.
- W1722267265 type Work @default.
- W1722267265 sameAs 1722267265 @default.
- W1722267265 citedByCount "8" @default.
- W1722267265 countsByYear W17222672652014 @default.
- W1722267265 countsByYear W17222672652018 @default.
- W1722267265 countsByYear W17222672652021 @default.
- W1722267265 countsByYear W17222672652022 @default.
- W1722267265 crossrefType "journal-article" @default.
- W1722267265 hasAuthorship W1722267265A5005622653 @default.
- W1722267265 hasAuthorship W1722267265A5011017049 @default.
- W1722267265 hasAuthorship W1722267265A5038704651 @default.
- W1722267265 hasAuthorship W1722267265A5042051309 @default.
- W1722267265 hasAuthorship W1722267265A5053814224 @default.
- W1722267265 hasConcept C104317684 @default.
- W1722267265 hasConcept C142724271 @default.
- W1722267265 hasConcept C16005928 @default.
- W1722267265 hasConcept C187212893 @default.
- W1722267265 hasConcept C2778745941 @default.
- W1722267265 hasConcept C2779869378 @default.
- W1722267265 hasConcept C2779923321 @default.
- W1722267265 hasConcept C2910862020 @default.
- W1722267265 hasConcept C501734568 @default.
- W1722267265 hasConcept C54355233 @default.
- W1722267265 hasConcept C71924100 @default.
- W1722267265 hasConcept C75563809 @default.
- W1722267265 hasConcept C86803240 @default.
- W1722267265 hasConceptScore W1722267265C104317684 @default.
- W1722267265 hasConceptScore W1722267265C142724271 @default.
- W1722267265 hasConceptScore W1722267265C16005928 @default.
- W1722267265 hasConceptScore W1722267265C187212893 @default.
- W1722267265 hasConceptScore W1722267265C2778745941 @default.
- W1722267265 hasConceptScore W1722267265C2779869378 @default.
- W1722267265 hasConceptScore W1722267265C2779923321 @default.
- W1722267265 hasConceptScore W1722267265C2910862020 @default.
- W1722267265 hasConceptScore W1722267265C501734568 @default.
- W1722267265 hasConceptScore W1722267265C54355233 @default.
- W1722267265 hasConceptScore W1722267265C71924100 @default.
- W1722267265 hasConceptScore W1722267265C75563809 @default.
- W1722267265 hasConceptScore W1722267265C86803240 @default.
- W1722267265 hasIssue "6" @default.
- W1722267265 hasLocation W17222672651 @default.
- W1722267265 hasOpenAccess W1722267265 @default.
- W1722267265 hasPrimaryLocation W17222672651 @default.
- W1722267265 hasRelatedWork W1722267265 @default.
- W1722267265 hasRelatedWork W1973989747 @default.
- W1722267265 hasRelatedWork W1979022589 @default.
- W1722267265 hasRelatedWork W2023105792 @default.
- W1722267265 hasRelatedWork W2068193242 @default.
- W1722267265 hasRelatedWork W2115328944 @default.
- W1722267265 hasRelatedWork W2137597926 @default.
- W1722267265 hasRelatedWork W2150459172 @default.
- W1722267265 hasRelatedWork W2508530557 @default.
- W1722267265 hasRelatedWork W3147986749 @default.
- W1722267265 hasVolume "13" @default.
- W1722267265 isParatext "false" @default.
- W1722267265 isRetracted "false" @default.
- W1722267265 magId "1722267265" @default.
- W1722267265 workType "article" @default.