FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2550872449> ?p ?o ?g. }

• W2550872449 endingPage "912" @default.
• W2550872449 startingPage "908" @default.
• W2550872449 abstract "Proximal 16p11.2 microdeletions are recurrent microdeletions with an overall prevalence of 0.03%. In patients with segmentation defects of the vertebra (SDV), a burden of this microdeletion was observed with TBX6 as a candidate gene for SDV. In a published cohort of patients with congenital scoliosis (CS), TBX6 haploinsufficiency was compound heterozygous with a common haplotype. Besides, a single three-generation family with spondylocostal dysostosis (SCD) was reported with a heterozygous stop-loss of TBX6. These observations questioned both on the inheritance mode and on the variable expressivity associated with TBX6-associated SDV. Based on a national recruitment of 56 patients with SDV, we describe four patients with variable SDV ranging from CS to SCD associated with biallelic variations of TBX6. Two patients with CS were carrying a proximal 16p11.2 microdeletion associated with the previously reported haplotype. One patient with extensive SDV was carrying a proximal 16p11.2 microdeletion associated with a TBX6 rare missense change. One patient with a clinical diagnosis of SCD was compound heterozygous for two TBX6 rare missense changes. The three rare variants were affecting the chromatin-binding domain. Our data illustrate the variable expressivity of recessive TBX6 ranging from CS to SCD." @default.
• W2550872449 created "2016-11-30" @default.
• W2550872449 creator A5000192491 @default.
• W2550872449 creator A5001544688 @default.
• W2550872449 creator A5004165247 @default.
• W2550872449 creator A5005179205 @default.
• W2550872449 creator A5012156827 @default.
• W2550872449 creator A5019361906 @default.
• W2550872449 creator A5019864599 @default.
• W2550872449 creator A5024331920 @default.
• W2550872449 creator A5030278387 @default.
• W2550872449 creator A5032036144 @default.
• W2550872449 creator A5038340888 @default.
• W2550872449 creator A5048264039 @default.
• W2550872449 creator A5057248304 @default.
• W2550872449 creator A5062804150 @default.
• W2550872449 creator A5082716117 @default.
• W2550872449 date "2017-02-22" @default.
• W2550872449 modified "2023-10-17" @default.
• W2550872449 title "Autosomal recessive variations of <i>TBX6</i> , from congenital scoliosis to spondylocostal dysostosis" @default.
• W2550872449 cites W1997162359 @default.
• W2550872449 cites W2004075871 @default.
• W2550872449 cites W2005710199 @default.
• W2550872449 cites W2029407865 @default.
• W2550872449 cites W2030998129 @default.
• W2550872449 cites W2035972819 @default.
• W2550872449 cites W2036796394 @default.
• W2550872449 cites W2059707376 @default.
• W2550872449 cites W2089950216 @default.
• W2550872449 cites W2095631588 @default.
• W2550872449 cites W2119180969 @default.
• W2550872449 cites W2124908019 @default.
• W2550872449 cites W2141704631 @default.
• W2550872449 cites W2168974130 @default.
• W2550872449 doi "https://doi.org/10.1111/cge.12918" @default.
• W2550872449 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/27861764" @default.
• W2550872449 hasPublicationYear "2017" @default.
• W2550872449 type Work @default.
• W2550872449 sameAs 2550872449 @default.
• W2550872449 citedByCount "36" @default.
• W2550872449 countsByYear W25508724492017 @default.
• W2550872449 countsByYear W25508724492018 @default.
• W2550872449 countsByYear W25508724492019 @default.
• W2550872449 countsByYear W25508724492020 @default.
• W2550872449 countsByYear W25508724492021 @default.
• W2550872449 countsByYear W25508724492022 @default.
• W2550872449 countsByYear W25508724492023 @default.
• W2550872449 crossrefType "journal-article" @default.
• W2550872449 hasAuthorship W2550872449A5000192491 @default.
• W2550872449 hasAuthorship W2550872449A5001544688 @default.
• W2550872449 hasAuthorship W2550872449A5004165247 @default.
• W2550872449 hasAuthorship W2550872449A5005179205 @default.
• W2550872449 hasAuthorship W2550872449A5012156827 @default.
• W2550872449 hasAuthorship W2550872449A5019361906 @default.
• W2550872449 hasAuthorship W2550872449A5019864599 @default.
• W2550872449 hasAuthorship W2550872449A5024331920 @default.
• W2550872449 hasAuthorship W2550872449A5030278387 @default.
• W2550872449 hasAuthorship W2550872449A5032036144 @default.
• W2550872449 hasAuthorship W2550872449A5038340888 @default.
• W2550872449 hasAuthorship W2550872449A5048264039 @default.
• W2550872449 hasAuthorship W2550872449A5057248304 @default.
• W2550872449 hasAuthorship W2550872449A5062804150 @default.
• W2550872449 hasAuthorship W2550872449A5082716117 @default.
• W2550872449 hasConcept C104317684 @default.
• W2550872449 hasConcept C12125453 @default.
• W2550872449 hasConcept C127716648 @default.
• W2550872449 hasConcept C501734568 @default.
• W2550872449 hasConcept C54355233 @default.
• W2550872449 hasConcept C68838962 @default.
• W2550872449 hasConcept C71924100 @default.
• W2550872449 hasConcept C75563809 @default.
• W2550872449 hasConcept C86803240 @default.
• W2550872449 hasConceptScore W2550872449C104317684 @default.
• W2550872449 hasConceptScore W2550872449C12125453 @default.
• W2550872449 hasConceptScore W2550872449C127716648 @default.
• W2550872449 hasConceptScore W2550872449C501734568 @default.
• W2550872449 hasConceptScore W2550872449C54355233 @default.
• W2550872449 hasConceptScore W2550872449C68838962 @default.
• W2550872449 hasConceptScore W2550872449C71924100 @default.
• W2550872449 hasConceptScore W2550872449C75563809 @default.
• W2550872449 hasConceptScore W2550872449C86803240 @default.
• W2550872449 hasFunder F4320327269 @default.
• W2550872449 hasIssue "6" @default.
• W2550872449 hasLocation W25508724491 @default.
• W2550872449 hasLocation W25508724492 @default.
• W2550872449 hasLocation W25508724493 @default.
• W2550872449 hasLocation W25508724494 @default.
• W2550872449 hasOpenAccess W2550872449 @default.
• W2550872449 hasPrimaryLocation W25508724491 @default.
• W2550872449 hasRelatedWork W2033574449 @default.
• W2550872449 hasRelatedWork W2050451211 @default.
• W2550872449 hasRelatedWork W2054143111 @default.
• W2550872449 hasRelatedWork W2116485393 @default.
• W2550872449 hasRelatedWork W2133845331 @default.
• W2550872449 hasRelatedWork W2244346197 @default.
• W2550872449 hasRelatedWork W2625779927 @default.
• W2550872449 hasRelatedWork W3189132110 @default.
• W2550872449 hasRelatedWork W3200785218 @default.

• next