Matches in SemOpenAlex for { <https://semopenalex.org/work/W4300688458> ?p ?o ?g. }
Showing items 1 to 72 of
72
with 100 items per page.
- W4300688458 endingPage "1084" @default.
- W4300688458 startingPage "1080" @default.
- W4300688458 abstract "To explore the genetic basis for a Chinese pedigree affected with congenital deafness pedigree in conjunct with enlarged vestibular aqueduct.Whole-exome sequencing was carried out for the proband to analyze the genes associated with hereditary deafness. Candidate variant was verified by Sanger sequencing of the proband's parents and her younger brother.The proband was found to harbor compound heterozygous variants including c.748dupG (p.Asp250Glyfs*30Asn) (pathogenic, PVS1+PM2+PP4) and c.879C>A (p.Ser293Arg) (likely pathogenic, PM2+PM3+PP1+PP4) of the FOXI1 gene, which has been associated with enlarged vestibular aqueduct (OMIM 600791). Both variants were unreported previously. The variants were respectively inherited from proband's parents whom had normal hearing. Her younger brother was heterozygous for the c.748dupG variant but also had normal hearing.The compound heterozygous variants of the FOXI1 gene probably underlay the pathogenicity of congenital deafness and enlarged vestibular aqueduct in the proband. The co-segregation of the two variants with the hearing loss has facilitated genetic counseling and prenatal diagnosis for this pedigree." @default.
- W4300688458 created "2022-10-04" @default.
- W4300688458 creator A5013617878 @default.
- W4300688458 creator A5022962081 @default.
- W4300688458 creator A5045987277 @default.
- W4300688458 date "2022-10-10" @default.
- W4300688458 modified "2023-09-29" @default.
- W4300688458 title "[Diagnosis of a Chinese pedigree affected with autosomal recessive deafness 4 with enlarged vestibular aqueduct due to compound heterozygous variants of FOXI1 gene]." @default.
- W4300688458 doi "https://doi.org/10.3760/cma.j.cn511374-20210722-00613" @default.
- W4300688458 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/36184087" @default.
- W4300688458 hasPublicationYear "2022" @default.
- W4300688458 type Work @default.
- W4300688458 citedByCount "1" @default.
- W4300688458 countsByYear W43006884582023 @default.
- W4300688458 crossrefType "journal-article" @default.
- W4300688458 hasAuthorship W4300688458A5013617878 @default.
- W4300688458 hasAuthorship W4300688458A5022962081 @default.
- W4300688458 hasAuthorship W4300688458A5045987277 @default.
- W4300688458 hasConcept C104317684 @default.
- W4300688458 hasConcept C12125453 @default.
- W4300688458 hasConcept C16671776 @default.
- W4300688458 hasConcept C180754005 @default.
- W4300688458 hasConcept C188997412 @default.
- W4300688458 hasConcept C2776685072 @default.
- W4300688458 hasConcept C2780274975 @default.
- W4300688458 hasConcept C2780493683 @default.
- W4300688458 hasConcept C2780673598 @default.
- W4300688458 hasConcept C2781114197 @default.
- W4300688458 hasConcept C501734568 @default.
- W4300688458 hasConcept C54355233 @default.
- W4300688458 hasConcept C548259974 @default.
- W4300688458 hasConcept C71924100 @default.
- W4300688458 hasConcept C76818968 @default.
- W4300688458 hasConcept C80227256 @default.
- W4300688458 hasConcept C86803240 @default.
- W4300688458 hasConceptScore W4300688458C104317684 @default.
- W4300688458 hasConceptScore W4300688458C12125453 @default.
- W4300688458 hasConceptScore W4300688458C16671776 @default.
- W4300688458 hasConceptScore W4300688458C180754005 @default.
- W4300688458 hasConceptScore W4300688458C188997412 @default.
- W4300688458 hasConceptScore W4300688458C2776685072 @default.
- W4300688458 hasConceptScore W4300688458C2780274975 @default.
- W4300688458 hasConceptScore W4300688458C2780493683 @default.
- W4300688458 hasConceptScore W4300688458C2780673598 @default.
- W4300688458 hasConceptScore W4300688458C2781114197 @default.
- W4300688458 hasConceptScore W4300688458C501734568 @default.
- W4300688458 hasConceptScore W4300688458C54355233 @default.
- W4300688458 hasConceptScore W4300688458C548259974 @default.
- W4300688458 hasConceptScore W4300688458C71924100 @default.
- W4300688458 hasConceptScore W4300688458C76818968 @default.
- W4300688458 hasConceptScore W4300688458C80227256 @default.
- W4300688458 hasConceptScore W4300688458C86803240 @default.
- W4300688458 hasIssue "10" @default.
- W4300688458 hasLocation W43006884581 @default.
- W4300688458 hasOpenAccess W4300688458 @default.
- W4300688458 hasPrimaryLocation W43006884581 @default.
- W4300688458 hasRelatedWork W2596795717 @default.
- W4300688458 hasRelatedWork W2610378316 @default.
- W4300688458 hasRelatedWork W2756009492 @default.
- W4300688458 hasRelatedWork W3040225574 @default.
- W4300688458 hasRelatedWork W3101780236 @default.
- W4300688458 hasRelatedWork W3118975915 @default.
- W4300688458 hasRelatedWork W3157589997 @default.
- W4300688458 hasRelatedWork W4200105762 @default.
- W4300688458 hasRelatedWork W4255876850 @default.
- W4300688458 hasRelatedWork W4300688458 @default.
- W4300688458 hasVolume "39" @default.
- W4300688458 isParatext "false" @default.
- W4300688458 isRetracted "false" @default.
- W4300688458 workType "article" @default.