FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W3042941403> ?p ?o ?g. }

• W3042941403 endingPage "299" @default.
• W3042941403 startingPage "294" @default.
• W3042941403 abstract "Abstract Connective tissue diseases, including osteogenesis imperfecta (OI) and Ehlers-Danlos syndrome (EDS), exhibit a high degree of clinical and genetic heterogeneity. We report two sisters with blue sclerae, joint hypermobility and hearing loss. Whole-exome sequencing identified two compound heterozygous ZNF469 loss-of-function mutations due to a frameshift. Since these findings indicate the presence of brittle cornea syndrome (BCS), we performed ocular optical coherence tomography (OCT) and pachymetry, which revealed a moderate decrease in corneal thickness. While only one traumatic fracture was observed in each of the patients, a detailed skeletal assessment indicated no specific patterns of bone mass and microstructure reduction as well as normal bone turnover markers. Taken together, our findings point to a mild form of brittle cornea syndrome with a phenotype compatible with the extraskeletal features of OI but also with EDS." @default.
• W3042941403 created "2020-07-23" @default.
• W3042941403 creator A5006161077 @default.
• W3042941403 creator A5034319562 @default.
• W3042941403 creator A5054734295 @default.
• W3042941403 creator A5059479449 @default.
• W3042941403 creator A5079425977 @default.
• W3042941403 date "2020-07-15" @default.
• W3042941403 modified "2023-10-03" @default.
• W3042941403 title "Whole-Exome Sequencing Identifies Novel Compound Heterozygous ZNF469 Mutations in Two Siblings with Mild Brittle Cornea Syndrome" @default.
• W3042941403 cites W1983256487 @default.
• W3042941403 cites W2016063426 @default.
• W3042941403 cites W2021047349 @default.
• W3042941403 cites W2039189574 @default.
• W3042941403 cites W2047524138 @default.
• W3042941403 cites W2076357933 @default.
• W3042941403 cites W2077021664 @default.
• W3042941403 cites W2082483408 @default.
• W3042941403 cites W2114489295 @default.
• W3042941403 cites W2138396428 @default.
• W3042941403 cites W2138624472 @default.
• W3042941403 cites W2154237868 @default.
• W3042941403 cites W2170675531 @default.
• W3042941403 cites W2260545953 @default.
• W3042941403 cites W2407440927 @default.
• W3042941403 cites W2597004434 @default.
• W3042941403 cites W2604770955 @default.
• W3042941403 cites W2770646498 @default.
• W3042941403 cites W2897067527 @default.
• W3042941403 cites W2946701114 @default.
• W3042941403 cites W2968991114 @default.
• W3042941403 cites W4211060251 @default.
• W3042941403 doi "https://doi.org/10.1007/s00223-020-00721-3" @default.
• W3042941403 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/7415034" @default.
• W3042941403 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/32671420" @default.
• W3042941403 hasPublicationYear "2020" @default.
• W3042941403 type Work @default.
• W3042941403 sameAs 3042941403 @default.
• W3042941403 citedByCount "8" @default.
• W3042941403 countsByYear W30429414032021 @default.
• W3042941403 countsByYear W30429414032022 @default.
• W3042941403 crossrefType "journal-article" @default.
• W3042941403 hasAuthorship W3042941403A5006161077 @default.
• W3042941403 hasAuthorship W3042941403A5034319562 @default.
• W3042941403 hasAuthorship W3042941403A5054734295 @default.
• W3042941403 hasAuthorship W3042941403A5059479449 @default.
• W3042941403 hasAuthorship W3042941403A5079425977 @default.
• W3042941403 hasBestOaLocation W30429414031 @default.
• W3042941403 hasConcept C104317684 @default.
• W3042941403 hasConcept C105702510 @default.
• W3042941403 hasConcept C118487528 @default.
• W3042941403 hasConcept C12125453 @default.
• W3042941403 hasConcept C127716648 @default.
• W3042941403 hasConcept C142724271 @default.
• W3042941403 hasConcept C16671776 @default.
• W3042941403 hasConcept C2776882836 @default.
• W3042941403 hasConcept C2777668750 @default.
• W3042941403 hasConcept C2778333328 @default.
• W3042941403 hasConcept C2778918178 @default.
• W3042941403 hasConcept C2781191397 @default.
• W3042941403 hasConcept C2909399601 @default.
• W3042941403 hasConcept C29906990 @default.
• W3042941403 hasConcept C518705261 @default.
• W3042941403 hasConcept C54355233 @default.
• W3042941403 hasConcept C64618202 @default.
• W3042941403 hasConcept C71924100 @default.
• W3042941403 hasConcept C86803240 @default.
• W3042941403 hasConceptScore W3042941403C104317684 @default.
• W3042941403 hasConceptScore W3042941403C105702510 @default.
• W3042941403 hasConceptScore W3042941403C118487528 @default.
• W3042941403 hasConceptScore W3042941403C12125453 @default.
• W3042941403 hasConceptScore W3042941403C127716648 @default.
• W3042941403 hasConceptScore W3042941403C142724271 @default.
• W3042941403 hasConceptScore W3042941403C16671776 @default.
• W3042941403 hasConceptScore W3042941403C2776882836 @default.
• W3042941403 hasConceptScore W3042941403C2777668750 @default.
• W3042941403 hasConceptScore W3042941403C2778333328 @default.
• W3042941403 hasConceptScore W3042941403C2778918178 @default.
• W3042941403 hasConceptScore W3042941403C2781191397 @default.
• W3042941403 hasConceptScore W3042941403C2909399601 @default.
• W3042941403 hasConceptScore W3042941403C29906990 @default.
• W3042941403 hasConceptScore W3042941403C518705261 @default.
• W3042941403 hasConceptScore W3042941403C54355233 @default.
• W3042941403 hasConceptScore W3042941403C64618202 @default.
• W3042941403 hasConceptScore W3042941403C71924100 @default.
• W3042941403 hasConceptScore W3042941403C86803240 @default.
• W3042941403 hasFunder F4320321114 @default.
• W3042941403 hasIssue "3" @default.
• W3042941403 hasLocation W30429414031 @default.
• W3042941403 hasLocation W30429414032 @default.
• W3042941403 hasOpenAccess W3042941403 @default.
• W3042941403 hasPrimaryLocation W30429414031 @default.
• W3042941403 hasRelatedWork W1969897382 @default.
• W3042941403 hasRelatedWork W2095057676 @default.
• W3042941403 hasRelatedWork W2262112461 @default.
• W3042941403 hasRelatedWork W2287693578 @default.
• W3042941403 hasRelatedWork W2756009492 @default.
• W3042941403 hasRelatedWork W2901605975 @default.

• next