Matches in SemOpenAlex for { <https://semopenalex.org/work/W3084823716> ?p ?o ?g. }
Showing items 1 to 91 of
91
with 100 items per page.
- W3084823716 endingPage "2963" @default.
- W3084823716 startingPage "2959" @default.
- W3084823716 abstract "Abstract NFIB (Nuclear Factor I B) haploinsufficiency has recently been identified as a cause of intellectual disability and macrocephaly. Here we describe two patients with pathogenic variants in NFIB . The first is a 6‐year‐old Latino male with developmental delays, mild hypotonia, facial anomalies, and brain magnetic resonance imaging findings comprising mild thinning of the corpus callosum, with more marked thinning of the splenium and blunting of the rostrum and cavum septum pellucidum. Exome sequencing identified a previously described de novo variant in NFIB , c.265C>T, predicting p.Arg89Ter. The second is a 5‐year‐old Latino male with developmental delays, hypotonia, dysmorphic features, a preauricular tag and pit, a small ventricular septal defect, and brain magnetic resonance imaging findings including a dysmorphic corpus callosum and a small posterior fossa. A single nucleotide polymorphism microarray identified a 92 kb interstitial deletion at 9p23 including several exons of NFIB and no other known genes. Our two patients add to the knowledge of this rare condition through our addition of new brain MRI findings and dysmorphic features. Additionally, these are the first known Latino patients to be described with NFIB haploinsufficiency, expanding our understanding of the associated facial features in diverse populations. Further data are needed to determine genotype–phenotype relationships for NFIB ." @default.
- W3084823716 created "2020-09-21" @default.
- W3084823716 creator A5001775335 @default.
- W3084823716 creator A5002510886 @default.
- W3084823716 creator A5021830355 @default.
- W3084823716 creator A5027229884 @default.
- W3084823716 creator A5035055393 @default.
- W3084823716 creator A5036122876 @default.
- W3084823716 creator A5049938267 @default.
- W3084823716 date "2020-09-09" @default.
- W3084823716 modified "2023-10-13" @default.
- W3084823716 title "The expanding spectrum of <scp> <i>NFIB</i> </scp> ‐associated phenotypes in a diverse patient population—A report of two new patients" @default.
- W3084823716 cites W1494621053 @default.
- W3084823716 cites W2021891225 @default.
- W3084823716 cites W2051978340 @default.
- W3084823716 cites W2121678464 @default.
- W3084823716 cites W2153840519 @default.
- W3084823716 cites W2531282913 @default.
- W3084823716 cites W2551666886 @default.
- W3084823716 cites W2895431458 @default.
- W3084823716 cites W2898850951 @default.
- W3084823716 cites W2986905515 @default.
- W3084823716 cites W2997476115 @default.
- W3084823716 doi "https://doi.org/10.1002/ajmg.a.61852" @default.
- W3084823716 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/32902921" @default.
- W3084823716 hasPublicationYear "2020" @default.
- W3084823716 type Work @default.
- W3084823716 sameAs 3084823716 @default.
- W3084823716 citedByCount "3" @default.
- W3084823716 countsByYear W30848237162022 @default.
- W3084823716 countsByYear W30848237162023 @default.
- W3084823716 crossrefType "journal-article" @default.
- W3084823716 hasAuthorship W3084823716A5001775335 @default.
- W3084823716 hasAuthorship W3084823716A5002510886 @default.
- W3084823716 hasAuthorship W3084823716A5021830355 @default.
- W3084823716 hasAuthorship W3084823716A5027229884 @default.
- W3084823716 hasAuthorship W3084823716A5035055393 @default.
- W3084823716 hasAuthorship W3084823716A5036122876 @default.
- W3084823716 hasAuthorship W3084823716A5049938267 @default.
- W3084823716 hasConcept C104317684 @default.
- W3084823716 hasConcept C118552586 @default.
- W3084823716 hasConcept C127716648 @default.
- W3084823716 hasConcept C142724271 @default.
- W3084823716 hasConcept C16671776 @default.
- W3084823716 hasConcept C187212893 @default.
- W3084823716 hasConcept C205778803 @default.
- W3084823716 hasConcept C2778183499 @default.
- W3084823716 hasConcept C2778538070 @default.
- W3084823716 hasConcept C2779546488 @default.
- W3084823716 hasConcept C2781083543 @default.
- W3084823716 hasConcept C54355233 @default.
- W3084823716 hasConcept C68838962 @default.
- W3084823716 hasConcept C71924100 @default.
- W3084823716 hasConcept C86803240 @default.
- W3084823716 hasConceptScore W3084823716C104317684 @default.
- W3084823716 hasConceptScore W3084823716C118552586 @default.
- W3084823716 hasConceptScore W3084823716C127716648 @default.
- W3084823716 hasConceptScore W3084823716C142724271 @default.
- W3084823716 hasConceptScore W3084823716C16671776 @default.
- W3084823716 hasConceptScore W3084823716C187212893 @default.
- W3084823716 hasConceptScore W3084823716C205778803 @default.
- W3084823716 hasConceptScore W3084823716C2778183499 @default.
- W3084823716 hasConceptScore W3084823716C2778538070 @default.
- W3084823716 hasConceptScore W3084823716C2779546488 @default.
- W3084823716 hasConceptScore W3084823716C2781083543 @default.
- W3084823716 hasConceptScore W3084823716C54355233 @default.
- W3084823716 hasConceptScore W3084823716C68838962 @default.
- W3084823716 hasConceptScore W3084823716C71924100 @default.
- W3084823716 hasConceptScore W3084823716C86803240 @default.
- W3084823716 hasFunder F4320337348 @default.
- W3084823716 hasIssue "12" @default.
- W3084823716 hasLocation W30848237161 @default.
- W3084823716 hasOpenAccess W3084823716 @default.
- W3084823716 hasPrimaryLocation W30848237161 @default.
- W3084823716 hasRelatedWork W2007522473 @default.
- W3084823716 hasRelatedWork W2011666375 @default.
- W3084823716 hasRelatedWork W2083077177 @default.
- W3084823716 hasRelatedWork W2539367695 @default.
- W3084823716 hasRelatedWork W2567002876 @default.
- W3084823716 hasRelatedWork W2804323293 @default.
- W3084823716 hasRelatedWork W2894919524 @default.
- W3084823716 hasRelatedWork W2913167410 @default.
- W3084823716 hasRelatedWork W4308605944 @default.
- W3084823716 hasRelatedWork W4323921327 @default.
- W3084823716 hasVolume "182" @default.
- W3084823716 isParatext "false" @default.
- W3084823716 isRetracted "false" @default.
- W3084823716 magId "3084823716" @default.
- W3084823716 workType "article" @default.