FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2922377816> ?p ?o ?g. }

• W2922377816 endingPage "e14780" @default.
• W2922377816 startingPage "e14780" @default.
• W2922377816 abstract "Holoprosencephaly (HPE) is a severe congenital brain malformation resulting from failed or incomplete forebrain division in early pregnancy.In this study, we reported a 9-month old infant girl with mild microcephaly, semilobor HPE, and arachnoid cyst.Potential genetic defects were screened directly using trio-case whole exome sequencing (WES) rather than traditional karyotype, microarray, and Sanger sequencing of select genes.A previous unpublished de novo missense mutation (c.1069C >G, p.H357D) in the 3rd zinc finger domain (ZFD3) of the ZIC2 gene was identified in the affected individual, but not in the parents. Sanger sequencing using specific primers verified the mutation. Extensive bioinformatics analysis confirmed the pathogenicity of this extremely rare mutation. Phenotype-genotype analysis revealed significant correlation between the 3rd zinc-finger domain with semilobor HPE.These findings expanded the spectrum of the ZIC2 gene mutations and associated clinical manifestations, which is the first identification of a mutated ZIC2 gene in a Han infant girl with mild microcephaly, semilobor HPE, and arachnoid cyst." @default.
• W2922377816 created "2019-03-22" @default.
• W2922377816 creator A5033090201 @default.
• W2922377816 creator A5059643162 @default.
• W2922377816 creator A5064642234 @default.
• W2922377816 creator A5076768386 @default.
• W2922377816 date "2019-03-01" @default.
• W2922377816 modified "2023-09-25" @default.
• W2922377816 title "Case report: a novel mutation in ZIC2 in an infant with microcephaly, holoprosencephaly, and arachnoid cyst" @default.
• W2922377816 cites W1532683920 @default.
• W2922377816 cites W1556576544 @default.
• W2922377816 cites W1972743299 @default.
• W2922377816 cites W1975286770 @default.
• W2922377816 cites W1989519679 @default.
• W2922377816 cites W1993566393 @default.
• W2922377816 cites W2007377537 @default.
• W2922377816 cites W2029342984 @default.
• W2922377816 cites W2032110964 @default.
• W2922377816 cites W2035968251 @default.
• W2922377816 cites W2064233112 @default.
• W2922377816 cites W2071127048 @default.
• W2922377816 cites W2089968837 @default.
• W2922377816 cites W2099964607 @default.
• W2922377816 cites W2107905030 @default.
• W2922377816 cites W2113214429 @default.
• W2922377816 cites W2123028189 @default.
• W2922377816 cites W2128736049 @default.
• W2922377816 cites W2134524010 @default.
• W2922377816 cites W2140430316 @default.
• W2922377816 cites W2142647624 @default.
• W2922377816 cites W2145636711 @default.
• W2922377816 cites W2225053724 @default.
• W2922377816 cites W2463482797 @default.
• W2922377816 cites W2496435696 @default.
• W2922377816 cites W2751495121 @default.
• W2922377816 cites W2803250659 @default.
• W2922377816 doi "https://doi.org/10.1097/md.0000000000014780" @default.
• W2922377816 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/6417543" @default.
• W2922377816 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/30855487" @default.
• W2922377816 hasPublicationYear "2019" @default.
• W2922377816 type Work @default.
• W2922377816 sameAs 2922377816 @default.
• W2922377816 citedByCount "2" @default.
• W2922377816 countsByYear W29223778162022 @default.
• W2922377816 crossrefType "journal-article" @default.
• W2922377816 hasAuthorship W2922377816A5033090201 @default.
• W2922377816 hasAuthorship W2922377816A5059643162 @default.
• W2922377816 hasAuthorship W2922377816A5064642234 @default.
• W2922377816 hasAuthorship W2922377816A5076768386 @default.
• W2922377816 hasBestOaLocation W29223778161 @default.
• W2922377816 hasConcept C104317684 @default.
• W2922377816 hasConcept C127716648 @default.
• W2922377816 hasConcept C16671776 @default.
• W2922377816 hasConcept C172680121 @default.
• W2922377816 hasConcept C187212893 @default.
• W2922377816 hasConcept C24284526 @default.
• W2922377816 hasConcept C2776395126 @default.
• W2922377816 hasConcept C2779234561 @default.
• W2922377816 hasConcept C2779674439 @default.
• W2922377816 hasConcept C2781374659 @default.
• W2922377816 hasConcept C501734568 @default.
• W2922377816 hasConcept C54355233 @default.
• W2922377816 hasConcept C71924100 @default.
• W2922377816 hasConcept C75563809 @default.
• W2922377816 hasConcept C76818968 @default.
• W2922377816 hasConcept C86339819 @default.
• W2922377816 hasConcept C86803240 @default.
• W2922377816 hasConceptScore W2922377816C104317684 @default.
• W2922377816 hasConceptScore W2922377816C127716648 @default.
• W2922377816 hasConceptScore W2922377816C16671776 @default.
• W2922377816 hasConceptScore W2922377816C172680121 @default.
• W2922377816 hasConceptScore W2922377816C187212893 @default.
• W2922377816 hasConceptScore W2922377816C24284526 @default.
• W2922377816 hasConceptScore W2922377816C2776395126 @default.
• W2922377816 hasConceptScore W2922377816C2779234561 @default.
• W2922377816 hasConceptScore W2922377816C2779674439 @default.
• W2922377816 hasConceptScore W2922377816C2781374659 @default.
• W2922377816 hasConceptScore W2922377816C501734568 @default.
• W2922377816 hasConceptScore W2922377816C54355233 @default.
• W2922377816 hasConceptScore W2922377816C71924100 @default.
• W2922377816 hasConceptScore W2922377816C75563809 @default.
• W2922377816 hasConceptScore W2922377816C76818968 @default.
• W2922377816 hasConceptScore W2922377816C86339819 @default.
• W2922377816 hasConceptScore W2922377816C86803240 @default.
• W2922377816 hasIssue "10" @default.
• W2922377816 hasLocation W29223778161 @default.
• W2922377816 hasLocation W29223778162 @default.
• W2922377816 hasLocation W29223778163 @default.
• W2922377816 hasLocation W29223778164 @default.
• W2922377816 hasLocation W29223778165 @default.
• W2922377816 hasOpenAccess W2922377816 @default.
• W2922377816 hasPrimaryLocation W29223778161 @default.
• W2922377816 hasRelatedWork W2062446363 @default.
• W2922377816 hasRelatedWork W2198170080 @default.
• W2922377816 hasRelatedWork W2538525323 @default.
• W2922377816 hasRelatedWork W2911644512 @default.
• W2922377816 hasRelatedWork W2922377816 @default.
• W2922377816 hasRelatedWork W3014561160 @default.

• next