Matches in SemOpenAlex for { <https://semopenalex.org/work/W2896779123> ?p ?o ?g. }
Showing items 1 to 81 of
81
with 100 items per page.
- W2896779123 endingPage "2906" @default.
- W2896779123 startingPage "2901" @default.
- W2896779123 abstract "Abstract Interstitial deletions of chromosome 9q31 are very rare. The deletions in most reported patients have been detected by conventional cytogenetics, with reported breakpoints ranging between 9q21 and 9q34. Therefore, an accurate description of a “9q31 deletion syndrome” could not be established. However, based on microarray studies, a small region of overlap has recently been proposed. We report clinical features of two unrelated individuals with overlapping 9q deletions identified by SNP microarray analysis. Patient 1 has a 9 Mb deletion, while Patient 2's deletion was 21.6 Mb. The clinical features common to our patients and those in the literature include developmental delay and short stature. Patient 2 shows additional features not reported in other 9q31 deletions, such as hearing loss, ventriculomegaly, cleft lip and palate, and small kidneys, which could be due to the larger size of the deletion, hence the influence of the genes in the region beyond the smallest region of overlap. Based on the comparison of these patients with the previously reported patients, we redefine the smallest region of overlap and characterize the clinical features of the 9q31 deletion syndrome." @default.
- W2896779123 created "2018-10-26" @default.
- W2896779123 creator A5000031316 @default.
- W2896779123 creator A5021389036 @default.
- W2896779123 creator A5023646544 @default.
- W2896779123 creator A5043230326 @default.
- W2896779123 creator A5054778660 @default.
- W2896779123 creator A5070580548 @default.
- W2896779123 date "2018-10-22" @default.
- W2896779123 modified "2023-10-04" @default.
- W2896779123 title "Delineation of the 9q31 deletion syndrome: Genomic microarray characterization of two patients with overlapping deletions" @default.
- W2896779123 cites W1966700862 @default.
- W2896779123 cites W1973005579 @default.
- W2896779123 cites W1983466503 @default.
- W2896779123 cites W2002298264 @default.
- W2896779123 cites W2034805325 @default.
- W2896779123 cites W2055021095 @default.
- W2896779123 cites W2072136655 @default.
- W2896779123 cites W2087268439 @default.
- W2896779123 cites W2088861632 @default.
- W2896779123 cites W2089648641 @default.
- W2896779123 cites W2090020965 @default.
- W2896779123 cites W2105545460 @default.
- W2896779123 cites W2143301014 @default.
- W2896779123 cites W2614267207 @default.
- W2896779123 cites W4247333492 @default.
- W2896779123 doi "https://doi.org/10.1002/ajmg.a.40664" @default.
- W2896779123 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/30346094" @default.
- W2896779123 hasPublicationYear "2018" @default.
- W2896779123 type Work @default.
- W2896779123 sameAs 2896779123 @default.
- W2896779123 citedByCount "4" @default.
- W2896779123 countsByYear W28967791232021 @default.
- W2896779123 countsByYear W28967791232022 @default.
- W2896779123 crossrefType "journal-article" @default.
- W2896779123 hasAuthorship W2896779123A5000031316 @default.
- W2896779123 hasAuthorship W2896779123A5021389036 @default.
- W2896779123 hasAuthorship W2896779123A5023646544 @default.
- W2896779123 hasAuthorship W2896779123A5043230326 @default.
- W2896779123 hasAuthorship W2896779123A5054778660 @default.
- W2896779123 hasAuthorship W2896779123A5070580548 @default.
- W2896779123 hasConcept C104317684 @default.
- W2896779123 hasConcept C150194340 @default.
- W2896779123 hasConcept C174475383 @default.
- W2896779123 hasConcept C186836561 @default.
- W2896779123 hasConcept C206936463 @default.
- W2896779123 hasConcept C30481170 @default.
- W2896779123 hasConcept C54355233 @default.
- W2896779123 hasConcept C8415881 @default.
- W2896779123 hasConcept C86803240 @default.
- W2896779123 hasConceptScore W2896779123C104317684 @default.
- W2896779123 hasConceptScore W2896779123C150194340 @default.
- W2896779123 hasConceptScore W2896779123C174475383 @default.
- W2896779123 hasConceptScore W2896779123C186836561 @default.
- W2896779123 hasConceptScore W2896779123C206936463 @default.
- W2896779123 hasConceptScore W2896779123C30481170 @default.
- W2896779123 hasConceptScore W2896779123C54355233 @default.
- W2896779123 hasConceptScore W2896779123C8415881 @default.
- W2896779123 hasConceptScore W2896779123C86803240 @default.
- W2896779123 hasIssue "12" @default.
- W2896779123 hasLocation W28967791231 @default.
- W2896779123 hasLocation W28967791232 @default.
- W2896779123 hasOpenAccess W2896779123 @default.
- W2896779123 hasPrimaryLocation W28967791231 @default.
- W2896779123 hasRelatedWork W1970446973 @default.
- W2896779123 hasRelatedWork W2003320353 @default.
- W2896779123 hasRelatedWork W2031181019 @default.
- W2896779123 hasRelatedWork W2031436818 @default.
- W2896779123 hasRelatedWork W2035642640 @default.
- W2896779123 hasRelatedWork W2057547661 @default.
- W2896779123 hasRelatedWork W2068402552 @default.
- W2896779123 hasRelatedWork W2074935018 @default.
- W2896779123 hasRelatedWork W2409304779 @default.
- W2896779123 hasRelatedWork W2595364407 @default.
- W2896779123 hasVolume "176" @default.
- W2896779123 isParatext "false" @default.
- W2896779123 isRetracted "false" @default.
- W2896779123 magId "2896779123" @default.
- W2896779123 workType "article" @default.