FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2043142495> ?p ?o ?g. }

• W2043142495 endingPage "302" @default.
• W2043142495 startingPage "297" @default.
• W2043142495 abstract "Brachydactyly type A1 (BDA1; MIM 112500) is characterized by shortness or absence of the middle phalanx of the hands and feet. The condition is caused by heterozygous mutations in the Indian hedgehog (IHH) gene or a yet unidentified gene on chromosome 5p13. We investigated six affected members of a large Swedish family segregating autosomal dominant brachymesophalangia. Affected individuals show hypoplasia of the ulnar styloid processes, ulna minus, osteoarthritis, normal length of all distal phalanges and shortening or absence of the middle phalanges. Stationary ossicles or sesamoid bones were observed at the metacarpal heads in all patients. Genetic analysis of the family showed that the IHH-gene was linked to the disease (Zmax 3.42 at theta 0.00) and sequence analysis of IHH revealed a novel c.472C > T transition in all affected family members. The mutation results in a p.158Arg > Cys substitution located in the highly conserved amino-terminal domain of IHH. This domain is of importance for the interaction between IHH and the Patched receptor. Our combined findings add radiological findings to the BDA1 phenotype and confirm a critical functional domain of IHH." @default.
• W2043142495 created "2016-06-24" @default.
• W2043142495 creator A5019297998 @default.
• W2043142495 creator A5030052721 @default.
• W2043142495 creator A5047714417 @default.
• W2043142495 creator A5058502394 @default.
• W2043142495 creator A5080820625 @default.
• W2043142495 date "2009-09-01" @default.
• W2043142495 modified "2023-10-18" @default.
• W2043142495 title "Brachydactyly type A1 associated with unusual radiological findings and a novel Arg158Cys mutation in the Indian hedgehog (IHH) gene" @default.
• W2043142495 cites W1554074914 @default.
• W2043142495 cites W1968289419 @default.
• W2043142495 cites W1985892607 @default.
• W2043142495 cites W1987064339 @default.
• W2043142495 cites W1990760632 @default.
• W2043142495 cites W2006740560 @default.
• W2043142495 cites W2009518268 @default.
• W2043142495 cites W2020995185 @default.
• W2043142495 cites W2030102006 @default.
• W2043142495 cites W2031235322 @default.
• W2043142495 cites W2042982375 @default.
• W2043142495 cites W2045413837 @default.
• W2043142495 cites W2049842215 @default.
• W2043142495 cites W2050227185 @default.
• W2043142495 cites W2065074615 @default.
• W2043142495 cites W2093184499 @default.
• W2043142495 cites W2095437525 @default.
• W2043142495 cites W2134081020 @default.
• W2043142495 cites W2141115677 @default.
• W2043142495 cites W2143238378 @default.
• W2043142495 cites W2151710962 @default.
• W2043142495 cites W2152301430 @default.
• W2043142495 cites W2160162217 @default.
• W2043142495 cites W2163016211 @default.
• W2043142495 cites W2464394279 @default.
• W2043142495 cites W3004959556 @default.
• W2043142495 doi "https://doi.org/10.1016/j.ejmg.2009.05.008" @default.
• W2043142495 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/19464397" @default.
• W2043142495 hasPublicationYear "2009" @default.
• W2043142495 type Work @default.
• W2043142495 sameAs 2043142495 @default.
• W2043142495 citedByCount "13" @default.
• W2043142495 countsByYear W20431424952012 @default.
• W2043142495 countsByYear W20431424952013 @default.
• W2043142495 countsByYear W20431424952014 @default.
• W2043142495 countsByYear W20431424952016 @default.
• W2043142495 countsByYear W20431424952017 @default.
• W2043142495 countsByYear W20431424952018 @default.
• W2043142495 countsByYear W20431424952020 @default.
• W2043142495 countsByYear W20431424952021 @default.
• W2043142495 crossrefType "journal-article" @default.
• W2043142495 hasAuthorship W2043142495A5019297998 @default.
• W2043142495 hasAuthorship W2043142495A5030052721 @default.
• W2043142495 hasAuthorship W2043142495A5047714417 @default.
• W2043142495 hasAuthorship W2043142495A5058502394 @default.
• W2043142495 hasAuthorship W2043142495A5080820625 @default.
• W2043142495 hasConcept C104317684 @default.
• W2043142495 hasConcept C105702510 @default.
• W2043142495 hasConcept C134018914 @default.
• W2043142495 hasConcept C2776009832 @default.
• W2043142495 hasConcept C2776014264 @default.
• W2043142495 hasConcept C2777871287 @default.
• W2043142495 hasConcept C2778539099 @default.
• W2043142495 hasConcept C2780327212 @default.
• W2043142495 hasConcept C2781133459 @default.
• W2043142495 hasConcept C501734568 @default.
• W2043142495 hasConcept C54355233 @default.
• W2043142495 hasConcept C86803240 @default.
• W2043142495 hasConceptScore W2043142495C104317684 @default.
• W2043142495 hasConceptScore W2043142495C105702510 @default.
• W2043142495 hasConceptScore W2043142495C134018914 @default.
• W2043142495 hasConceptScore W2043142495C2776009832 @default.
• W2043142495 hasConceptScore W2043142495C2776014264 @default.
• W2043142495 hasConceptScore W2043142495C2777871287 @default.
• W2043142495 hasConceptScore W2043142495C2778539099 @default.
• W2043142495 hasConceptScore W2043142495C2780327212 @default.
• W2043142495 hasConceptScore W2043142495C2781133459 @default.
• W2043142495 hasConceptScore W2043142495C501734568 @default.
• W2043142495 hasConceptScore W2043142495C54355233 @default.
• W2043142495 hasConceptScore W2043142495C86803240 @default.
• W2043142495 hasIssue "5" @default.
• W2043142495 hasLocation W20431424951 @default.
• W2043142495 hasLocation W20431424952 @default.
• W2043142495 hasOpenAccess W2043142495 @default.
• W2043142495 hasPrimaryLocation W20431424951 @default.
• W2043142495 hasRelatedWork W1536009593 @default.
• W2043142495 hasRelatedWork W1585922331 @default.
• W2043142495 hasRelatedWork W1995810211 @default.
• W2043142495 hasRelatedWork W1997833033 @default.
• W2043142495 hasRelatedWork W2049842215 @default.
• W2043142495 hasRelatedWork W2072051402 @default.
• W2043142495 hasRelatedWork W2095514884 @default.
• W2043142495 hasRelatedWork W2118963338 @default.
• W2043142495 hasRelatedWork W3087896481 @default.
• W2043142495 hasRelatedWork W4239294017 @default.
• W2043142495 hasVolume "52" @default.
• W2043142495 isParatext "false" @default.
• W2043142495 isRetracted "false" @default.

• next