FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2607430066> ?p ?o ?g. }

• W2607430066 endingPage "1704" @default.
• W2607430066 startingPage "1698" @default.
• W2607430066 abstract "We previously reported exome sequencing in a short‐rib thoracic dystrophy (SRTD) cohort, in whom recessive mutations were identified in SRTD‐associated genes in 10 of 11 cases. A heterozygous stop mutation in the known SRTD gene WDR60 was identified in the remaining case; no novel candidate gene/s were suggested by homozygous/compound heterozygous analysis. This case was thus considered unsolved. Re‐analysis following an analysis pipeline update identified a homozygous mutation in C21orf2 (c.218G > C; p.Arg73Pro). This homozygous variant was previously removed at the quality control stage by the default GATK parameter “in‐breeding co‐efficient.” C21orf2 was recently associated with both Jeune asphyxiating thoracic dystrophy (JATD) and axial spondylometaphyseal dysplasia (axial SMD); this particular mutation was reported in homozygous and compound heterozygous state in both conditions. Our case has phenotypic features of both JATD and axial SMD; and the extent of thoracic involvement appears more severe than in other C21orf2 ‐positive cases. Identification of a homozygous C21orf2 mutation in this case emphasizes the value of exome sequencing for simultaneously screening known genes and identifying novel genes. Additionally, it highlights the importance of re‐interrogating data both as novel gene associations are identified and as analysis pipelines are refined. Finally, the severity of thoracic restriction in this case adds to the phenotypic spectrum attributable to C21orf2 mutations." @default.
• W2607430066 created "2017-04-28" @default.
• W2607430066 creator A5001096766 @default.
• W2607430066 creator A5006817439 @default.
• W2607430066 creator A5032806596 @default.
• W2607430066 creator A5033290363 @default.
• W2607430066 creator A5047919216 @default.
• W2607430066 creator A5054235737 @default.
• W2607430066 creator A5055744879 @default.
• W2607430066 creator A5072365073 @default.
• W2607430066 creator A5072370884 @default.
• W2607430066 date "2017-04-19" @default.
• W2607430066 modified "2023-10-17" @default.
• W2607430066 title "Homozygous variant in <i>C21orf2</i> in a case of Jeune syndrome with severe thoracic involvement: Extending the phenotypic spectrum" @default.
• W2607430066 cites W1547909473 @default.
• W2607430066 cites W1589408448 @default.
• W2607430066 cites W1970307382 @default.
• W2607430066 cites W1986784408 @default.
• W2607430066 cites W1995235432 @default.
• W2607430066 cites W2021723552 @default.
• W2607430066 cites W2022215748 @default.
• W2607430066 cites W2039819049 @default.
• W2607430066 cites W2064966510 @default.
• W2607430066 cites W2071024393 @default.
• W2607430066 cites W2079435339 @default.
• W2607430066 cites W2103376319 @default.
• W2607430066 cites W2107788310 @default.
• W2607430066 cites W2109026351 @default.
• W2607430066 cites W2112897062 @default.
• W2607430066 cites W2121042424 @default.
• W2607430066 cites W2124879534 @default.
• W2607430066 cites W2138956466 @default.
• W2607430066 cites W2141838218 @default.
• W2607430066 cites W2154643336 @default.
• W2607430066 cites W2170325108 @default.
• W2607430066 cites W2256016639 @default.
• W2607430066 cites W2301847182 @default.
• W2607430066 cites W2337009490 @default.
• W2607430066 cites W2339271657 @default.
• W2607430066 doi "https://doi.org/10.1002/ajmg.a.38215" @default.
• W2607430066 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/28422394" @default.
• W2607430066 hasPublicationYear "2017" @default.
• W2607430066 type Work @default.
• W2607430066 sameAs 2607430066 @default.
• W2607430066 citedByCount "14" @default.
• W2607430066 countsByYear W26074300662017 @default.
• W2607430066 countsByYear W26074300662019 @default.
• W2607430066 countsByYear W26074300662020 @default.
• W2607430066 countsByYear W26074300662021 @default.
• W2607430066 countsByYear W26074300662022 @default.
• W2607430066 countsByYear W26074300662023 @default.
• W2607430066 crossrefType "journal-article" @default.
• W2607430066 hasAuthorship W2607430066A5001096766 @default.
• W2607430066 hasAuthorship W2607430066A5006817439 @default.
• W2607430066 hasAuthorship W2607430066A5032806596 @default.
• W2607430066 hasAuthorship W2607430066A5033290363 @default.
• W2607430066 hasAuthorship W2607430066A5047919216 @default.
• W2607430066 hasAuthorship W2607430066A5054235737 @default.
• W2607430066 hasAuthorship W2607430066A5055744879 @default.
• W2607430066 hasAuthorship W2607430066A5072365073 @default.
• W2607430066 hasAuthorship W2607430066A5072370884 @default.
• W2607430066 hasConcept C104317684 @default.
• W2607430066 hasConcept C10590036 @default.
• W2607430066 hasConcept C12125453 @default.
• W2607430066 hasConcept C127716648 @default.
• W2607430066 hasConcept C163565370 @default.
• W2607430066 hasConcept C16671776 @default.
• W2607430066 hasConcept C501734568 @default.
• W2607430066 hasConcept C54355233 @default.
• W2607430066 hasConcept C86803240 @default.
• W2607430066 hasConceptScore W2607430066C104317684 @default.
• W2607430066 hasConceptScore W2607430066C10590036 @default.
• W2607430066 hasConceptScore W2607430066C12125453 @default.
• W2607430066 hasConceptScore W2607430066C127716648 @default.
• W2607430066 hasConceptScore W2607430066C163565370 @default.
• W2607430066 hasConceptScore W2607430066C16671776 @default.
• W2607430066 hasConceptScore W2607430066C501734568 @default.
• W2607430066 hasConceptScore W2607430066C54355233 @default.
• W2607430066 hasConceptScore W2607430066C86803240 @default.
• W2607430066 hasFunder F4320320471 @default.
• W2607430066 hasFunder F4320320984 @default.
• W2607430066 hasFunder F4320334705 @default.
• W2607430066 hasFunder F4320338088 @default.
• W2607430066 hasIssue "6" @default.
• W2607430066 hasLocation W26074300661 @default.
• W2607430066 hasLocation W26074300662 @default.
• W2607430066 hasOpenAccess W2607430066 @default.
• W2607430066 hasPrimaryLocation W26074300661 @default.
• W2607430066 hasRelatedWork W1983406990 @default.
• W2607430066 hasRelatedWork W2043256480 @default.
• W2607430066 hasRelatedWork W2093932542 @default.
• W2607430066 hasRelatedWork W2094815267 @default.
• W2607430066 hasRelatedWork W2157218076 @default.
• W2607430066 hasRelatedWork W2400191746 @default.
• W2607430066 hasRelatedWork W2484239316 @default.
• W2607430066 hasRelatedWork W3024198590 @default.
• W2607430066 hasRelatedWork W4281923012 @default.
• W2607430066 hasRelatedWork W4367844067 @default.

• next