Matches in SemOpenAlex for { <https://semopenalex.org/work/W4313397779> ?p ?o ?g. }
Showing items 1 to 96 of
96
with 100 items per page.
- W4313397779 endingPage "126" @default.
- W4313397779 startingPage "126" @default.
- W4313397779 abstract "PPP2R1A-related neurodevelopmental disorder (NDD) is expressed with autosomal dominant inheritance and is typically caused by a pathogenic de novo PPP2R1A mutation. It is characterized by the predominant features of hypotonia, developmental delay, moderate-to-severe intellectual disability, agenesis of corpus callosum (ACC), ventriculomegaly, and dysmorphic features; however, none of these anomalies have been diagnosed prenatally. We report on the prenatal diagnosis of PPP2R1A-related NDD in two fetuses by whole exome sequencing. Fetus 1 had partial ACC and severe lateral ventriculomegaly; the pathogenic heterozygous c.544C > T (p. Arg182Trp) de novo missense variant in PPP2R1A was detected. Fetus 2 had severe enlargement of the lateral and third ventricles and macrocephaly; they showed a heterozygous likely pathogenic mutation in PPP2R1A gene (c.547C > T, p. Arg183Trp). Both variants were de novo. This was the first study to use trio WES to prenatally analyze fetuses with PPP2R1A variants. Prenatal diagnosis will not only expand the fetal phenotype of this rare genetic condition but also allow for an appropriate counseling of prospective parents regarding pregnancy outcomes." @default.
- W4313397779 created "2023-01-06" @default.
- W4313397779 creator A5002214937 @default.
- W4313397779 creator A5010444377 @default.
- W4313397779 creator A5025340656 @default.
- W4313397779 creator A5028335544 @default.
- W4313397779 creator A5030878539 @default.
- W4313397779 creator A5047575034 @default.
- W4313397779 creator A5049839862 @default.
- W4313397779 creator A5064422200 @default.
- W4313397779 creator A5088804142 @default.
- W4313397779 date "2023-01-02" @default.
- W4313397779 modified "2023-10-02" @default.
- W4313397779 title "Prenatal Diagnosis of PPP2R1A-Related Neurodevelopmental Disorders Using Whole Exome Sequencing: Clinical Report and Review of Literature" @default.
- W4313397779 cites W1977599918 @default.
- W4313397779 cites W1986045037 @default.
- W4313397779 cites W1992060900 @default.
- W4313397779 cites W2003164050 @default.
- W4313397779 cites W2051978340 @default.
- W4313397779 cites W2096240070 @default.
- W4313397779 cites W2102290245 @default.
- W4313397779 cites W2592426261 @default.
- W4313397779 cites W2756443665 @default.
- W4313397779 cites W2793197019 @default.
- W4313397779 cites W2797817786 @default.
- W4313397779 cites W2910583407 @default.
- W4313397779 cites W2912938672 @default.
- W4313397779 cites W2952212510 @default.
- W4313397779 cites W2973823797 @default.
- W4313397779 cites W3036668493 @default.
- W4313397779 cites W3093540679 @default.
- W4313397779 cites W3177555331 @default.
- W4313397779 cites W3211056048 @default.
- W4313397779 cites W3216407282 @default.
- W4313397779 cites W4210704499 @default.
- W4313397779 doi "https://doi.org/10.3390/genes14010126" @default.
- W4313397779 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/36672867" @default.
- W4313397779 hasPublicationYear "2023" @default.
- W4313397779 type Work @default.
- W4313397779 citedByCount "2" @default.
- W4313397779 countsByYear W43133977792023 @default.
- W4313397779 crossrefType "journal-article" @default.
- W4313397779 hasAuthorship W4313397779A5002214937 @default.
- W4313397779 hasAuthorship W4313397779A5010444377 @default.
- W4313397779 hasAuthorship W4313397779A5025340656 @default.
- W4313397779 hasAuthorship W4313397779A5028335544 @default.
- W4313397779 hasAuthorship W4313397779A5030878539 @default.
- W4313397779 hasAuthorship W4313397779A5047575034 @default.
- W4313397779 hasAuthorship W4313397779A5049839862 @default.
- W4313397779 hasAuthorship W4313397779A5064422200 @default.
- W4313397779 hasAuthorship W4313397779A5088804142 @default.
- W4313397779 hasBestOaLocation W43133977791 @default.
- W4313397779 hasConcept C104317684 @default.
- W4313397779 hasConcept C16671776 @default.
- W4313397779 hasConcept C172680121 @default.
- W4313397779 hasConcept C2776212519 @default.
- W4313397779 hasConcept C2778258057 @default.
- W4313397779 hasConcept C2779234561 @default.
- W4313397779 hasConcept C2781083543 @default.
- W4313397779 hasConcept C501734568 @default.
- W4313397779 hasConcept C54355233 @default.
- W4313397779 hasConcept C71924100 @default.
- W4313397779 hasConcept C86803240 @default.
- W4313397779 hasConceptScore W4313397779C104317684 @default.
- W4313397779 hasConceptScore W4313397779C16671776 @default.
- W4313397779 hasConceptScore W4313397779C172680121 @default.
- W4313397779 hasConceptScore W4313397779C2776212519 @default.
- W4313397779 hasConceptScore W4313397779C2778258057 @default.
- W4313397779 hasConceptScore W4313397779C2779234561 @default.
- W4313397779 hasConceptScore W4313397779C2781083543 @default.
- W4313397779 hasConceptScore W4313397779C501734568 @default.
- W4313397779 hasConceptScore W4313397779C54355233 @default.
- W4313397779 hasConceptScore W4313397779C71924100 @default.
- W4313397779 hasConceptScore W4313397779C86803240 @default.
- W4313397779 hasIssue "1" @default.
- W4313397779 hasLocation W43133977791 @default.
- W4313397779 hasLocation W43133977792 @default.
- W4313397779 hasLocation W43133977793 @default.
- W4313397779 hasOpenAccess W4313397779 @default.
- W4313397779 hasPrimaryLocation W43133977791 @default.
- W4313397779 hasRelatedWork W1964342502 @default.
- W4313397779 hasRelatedWork W2198170080 @default.
- W4313397779 hasRelatedWork W2368136628 @default.
- W4313397779 hasRelatedWork W2464313322 @default.
- W4313397779 hasRelatedWork W2978563155 @default.
- W4313397779 hasRelatedWork W3024655264 @default.
- W4313397779 hasRelatedWork W3033608749 @default.
- W4313397779 hasRelatedWork W3205637686 @default.
- W4313397779 hasRelatedWork W4304166123 @default.
- W4313397779 hasRelatedWork W4313397779 @default.
- W4313397779 hasVolume "14" @default.
- W4313397779 isParatext "false" @default.
- W4313397779 isRetracted "false" @default.
- W4313397779 workType "article" @default.