FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2078370315> ?p ?o ?g. }

• W2078370315 endingPage "127" @default.
• W2078370315 startingPage "120" @default.
• W2078370315 abstract "We report a 22-year-old female with a variant of the Axenfeld-Rieger Syndrome (ARS) and discuss its relation with the subtelomeric 6p deletion. An ARS variant has been described in two familial cases of Axenfeld-Rieger Anomaly (ARA) featuring specific extra ocular manifestations-hypertelorism, midface hypoplasia, mild sensorial deafness, hydrocephaly, psychomotor delay and flattened femoral epiphyses. We proposed that this set of characteristics represents a separate syndrome within the ARS. On the other hand, there have been reported four cases with cryptic de novo pure 6pter microdeletions detected by specific subtelomeric probes in patients with ARS characteristics. We describe a 6pter deletion detected by SNP genotyping and confirmed by FISH and MLPA involving the FOXC1 gene in a patient with ocular and systemic findings that fit perfectly with the variant mentioned above. We conclude that the ARS variant belongs to the ARS phenotypic spectrum, which includes flattened femoral epiphyses as a feature." @default.
• W2078370315 created "2016-06-24" @default.
• W2078370315 creator A5001622468 @default.
• W2078370315 creator A5012800162 @default.
• W2078370315 creator A5017629515 @default.
• W2078370315 creator A5031191250 @default.
• W2078370315 creator A5040237484 @default.
• W2078370315 creator A5066052617 @default.
• W2078370315 creator A5069162657 @default.
• W2078370315 creator A5075269208 @default.
• W2078370315 creator A5075780343 @default.
• W2078370315 creator A5087791244 @default.
• W2078370315 date "2007-03-01" @default.
• W2078370315 modified "2023-10-17" @default.
• W2078370315 title "Clinical presentation of a variant of Axenfeld–Rieger syndrome associated with subtelomeric 6p deletion" @default.
• W2078370315 cites W1529788780 @default.
• W2078370315 cites W1966392116 @default.
• W2078370315 cites W1968422428 @default.
• W2078370315 cites W1973640772 @default.
• W2078370315 cites W1977701121 @default.
• W2078370315 cites W1994485359 @default.
• W2078370315 cites W2009170774 @default.
• W2078370315 cites W2009664649 @default.
• W2078370315 cites W2011335970 @default.
• W2078370315 cites W2020476067 @default.
• W2078370315 cites W2024254589 @default.
• W2078370315 cites W2034113208 @default.
• W2078370315 cites W2039286089 @default.
• W2078370315 cites W2043919690 @default.
• W2078370315 cites W2046696024 @default.
• W2078370315 cites W2054417451 @default.
• W2078370315 cites W2064013919 @default.
• W2078370315 cites W2068742840 @default.
• W2078370315 cites W2071983069 @default.
• W2078370315 cites W2080706532 @default.
• W2078370315 cites W2082642461 @default.
• W2078370315 cites W2102112915 @default.
• W2078370315 cites W2119911634 @default.
• W2078370315 cites W2121370826 @default.
• W2078370315 cites W2142332109 @default.
• W2078370315 cites W2163129996 @default.
• W2078370315 doi "https://doi.org/10.1016/j.ejmg.2006.10.005" @default.
• W2078370315 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/17157569" @default.
• W2078370315 hasPublicationYear "2007" @default.
• W2078370315 type Work @default.
• W2078370315 sameAs 2078370315 @default.
• W2078370315 citedByCount "26" @default.
• W2078370315 countsByYear W20783703152012 @default.
• W2078370315 countsByYear W20783703152013 @default.
• W2078370315 countsByYear W20783703152015 @default.
• W2078370315 countsByYear W20783703152016 @default.
• W2078370315 countsByYear W20783703152018 @default.
• W2078370315 countsByYear W20783703152020 @default.
• W2078370315 countsByYear W20783703152021 @default.
• W2078370315 countsByYear W20783703152022 @default.
• W2078370315 countsByYear W20783703152023 @default.
• W2078370315 crossrefType "journal-article" @default.
• W2078370315 hasAuthorship W2078370315A5001622468 @default.
• W2078370315 hasAuthorship W2078370315A5012800162 @default.
• W2078370315 hasAuthorship W2078370315A5017629515 @default.
• W2078370315 hasAuthorship W2078370315A5031191250 @default.
• W2078370315 hasAuthorship W2078370315A5040237484 @default.
• W2078370315 hasAuthorship W2078370315A5066052617 @default.
• W2078370315 hasAuthorship W2078370315A5069162657 @default.
• W2078370315 hasAuthorship W2078370315A5075269208 @default.
• W2078370315 hasAuthorship W2078370315A5075780343 @default.
• W2078370315 hasAuthorship W2078370315A5087791244 @default.
• W2078370315 hasConcept C104317684 @default.
• W2078370315 hasConcept C105702510 @default.
• W2078370315 hasConcept C142724271 @default.
• W2078370315 hasConcept C204787440 @default.
• W2078370315 hasConcept C23069440 @default.
• W2078370315 hasConcept C2776202747 @default.
• W2078370315 hasConcept C2779286207 @default.
• W2078370315 hasConcept C2780327212 @default.
• W2078370315 hasConcept C30481170 @default.
• W2078370315 hasConcept C54355233 @default.
• W2078370315 hasConcept C71924100 @default.
• W2078370315 hasConcept C86803240 @default.
• W2078370315 hasConceptScore W2078370315C104317684 @default.
• W2078370315 hasConceptScore W2078370315C105702510 @default.
• W2078370315 hasConceptScore W2078370315C142724271 @default.
• W2078370315 hasConceptScore W2078370315C204787440 @default.
• W2078370315 hasConceptScore W2078370315C23069440 @default.
• W2078370315 hasConceptScore W2078370315C2776202747 @default.
• W2078370315 hasConceptScore W2078370315C2779286207 @default.
• W2078370315 hasConceptScore W2078370315C2780327212 @default.
• W2078370315 hasConceptScore W2078370315C30481170 @default.
• W2078370315 hasConceptScore W2078370315C54355233 @default.
• W2078370315 hasConceptScore W2078370315C71924100 @default.
• W2078370315 hasConceptScore W2078370315C86803240 @default.
• W2078370315 hasIssue "2" @default.
• W2078370315 hasLocation W20783703151 @default.
• W2078370315 hasLocation W20783703152 @default.
• W2078370315 hasOpenAccess W2078370315 @default.
• W2078370315 hasPrimaryLocation W20783703151 @default.
• W2078370315 hasRelatedWork W1892736087 @default.
• W2078370315 hasRelatedWork W191983112 @default.

• next