Matches in SemOpenAlex for { <https://semopenalex.org/work/W2024384692> ?p ?o ?g. }
Showing items 1 to 78 of
78
with 100 items per page.
- W2024384692 endingPage "125" @default.
- W2024384692 startingPage "121" @default.
- W2024384692 abstract "Marie Unna hereditary hypotrichosis has been described in over a dozen families since 1924. Features include scant or no eyebrows at birth, the development of firm wiry hair in the first few years of life followed by a progressive patterned scalp alopecia in the second or third decade. This is associated with generalized hypotrichosis of the body and the condition is nonsyndromic. We have identified a novel form of autosomal dominant ectodermal dysplasia that resembles Marie Unna hereditary hypotrichosis in a family of 23 members over four generations. Affected individuals have patterned hair loss and associated hair shaft dystrophy similar to that seen in Marie Unna hereditary hypotrichosis. It differs from Marie Unna hereditary hypotrichosis by an absence of signs of affectation at birth, relative sparing of body hair, distal onycholysis, and intermittent cosegregation with autosomal dominant cleft lip and palate. Linkage studies to the known Marie Unna locus at 8p21 near the Hairless gene were performed. Linkage analysis using markers D8S298, D8S560, D8S258, and D8S282 revealed significant exclusion of this locus (Z = -2.0 or lower) at theta = 0.1. This demonstrates that this novel ectodermal dysplasia is both phenotypically and genetically distinct from Marie Unna hereditary hypotrichosis." @default.
- W2024384692 created "2016-06-24" @default.
- W2024384692 creator A5009694951 @default.
- W2024384692 creator A5024182874 @default.
- W2024384692 creator A5031177101 @default.
- W2024384692 creator A5035044854 @default.
- W2024384692 creator A5060137989 @default.
- W2024384692 date "2003-06-01" @default.
- W2024384692 modified "2023-10-18" @default.
- W2024384692 title "Progressive Patterned Scalp Hypotrichosis, with Wiry Hair, Onycholysis, and Intermittently Associated Cleft Lip and Palate: Clinical and Genetic Distinction from Marie Unna" @default.
- W2024384692 cites W1546923759 @default.
- W2024384692 cites W1975313211 @default.
- W2024384692 cites W1989096315 @default.
- W2024384692 cites W1990203828 @default.
- W2024384692 cites W2003875405 @default.
- W2024384692 cites W2042234759 @default.
- W2024384692 cites W2042957908 @default.
- W2024384692 cites W2082560685 @default.
- W2024384692 cites W2084529195 @default.
- W2024384692 cites W2169676271 @default.
- W2024384692 cites W2331645968 @default.
- W2024384692 doi "https://doi.org/10.1046/j.1523-1747.2003.12185.x" @default.
- W2024384692 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/12895008" @default.
- W2024384692 hasPublicationYear "2003" @default.
- W2024384692 type Work @default.
- W2024384692 sameAs 2024384692 @default.
- W2024384692 citedByCount "6" @default.
- W2024384692 crossrefType "journal-article" @default.
- W2024384692 hasAuthorship W2024384692A5009694951 @default.
- W2024384692 hasAuthorship W2024384692A5024182874 @default.
- W2024384692 hasAuthorship W2024384692A5031177101 @default.
- W2024384692 hasAuthorship W2024384692A5035044854 @default.
- W2024384692 hasAuthorship W2024384692A5060137989 @default.
- W2024384692 hasBestOaLocation W20243846921 @default.
- W2024384692 hasConcept C104317684 @default.
- W2024384692 hasConcept C105702510 @default.
- W2024384692 hasConcept C16005928 @default.
- W2024384692 hasConcept C2777225697 @default.
- W2024384692 hasConcept C2777304866 @default.
- W2024384692 hasConcept C2777918589 @default.
- W2024384692 hasConcept C2778102086 @default.
- W2024384692 hasConcept C2779248115 @default.
- W2024384692 hasConcept C54355233 @default.
- W2024384692 hasConcept C71924100 @default.
- W2024384692 hasConcept C86803240 @default.
- W2024384692 hasConceptScore W2024384692C104317684 @default.
- W2024384692 hasConceptScore W2024384692C105702510 @default.
- W2024384692 hasConceptScore W2024384692C16005928 @default.
- W2024384692 hasConceptScore W2024384692C2777225697 @default.
- W2024384692 hasConceptScore W2024384692C2777304866 @default.
- W2024384692 hasConceptScore W2024384692C2777918589 @default.
- W2024384692 hasConceptScore W2024384692C2778102086 @default.
- W2024384692 hasConceptScore W2024384692C2779248115 @default.
- W2024384692 hasConceptScore W2024384692C54355233 @default.
- W2024384692 hasConceptScore W2024384692C71924100 @default.
- W2024384692 hasConceptScore W2024384692C86803240 @default.
- W2024384692 hasIssue "1" @default.
- W2024384692 hasLocation W20243846921 @default.
- W2024384692 hasLocation W20243846922 @default.
- W2024384692 hasOpenAccess W2024384692 @default.
- W2024384692 hasPrimaryLocation W20243846921 @default.
- W2024384692 hasRelatedWork W2019464951 @default.
- W2024384692 hasRelatedWork W2019942019 @default.
- W2024384692 hasRelatedWork W2024384692 @default.
- W2024384692 hasRelatedWork W2038382858 @default.
- W2024384692 hasRelatedWork W2049203926 @default.
- W2024384692 hasRelatedWork W2066447386 @default.
- W2024384692 hasRelatedWork W2303920026 @default.
- W2024384692 hasRelatedWork W2409762127 @default.
- W2024384692 hasRelatedWork W4245241649 @default.
- W2024384692 hasRelatedWork W4298280404 @default.
- W2024384692 hasVolume "8" @default.
- W2024384692 isParatext "false" @default.
- W2024384692 isRetracted "false" @default.
- W2024384692 magId "2024384692" @default.
- W2024384692 workType "article" @default.