1. DoRA 2.0 | Database of Research Activity
  2. Hospital and Health Services
  3. Children's Health Queensland
  4. Children's Health Queensland Publications
Please use this identifier to cite or link to this item: https://dora.health.qld.gov.au/qldresearchjspui/handle/1/5058
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dc.contributor.authorEwing, A. D.en
dc.contributor.authorDawson, P. A.en
dc.contributor.authorHeussler, Helenen
dc.contributor.authorPrins, J. B.en
dc.contributor.authorLee, S.en
dc.date.accessioned2022-11-07T23:58:57Z-
dc.date.available2022-11-07T23:58:57Z-
dc.date.issued2020en
dc.identifier.citation23 , 2020en
dc.identifier.otherRISen
dc.identifier.urihttp://dora.health.qld.gov.au/qldresearchjspui/handle/1/5058-
dc.description.abstractWe report an actionable secondary finding from whole-genome sequencing (WGS) of a 10-year-old boy with autism. WGS identified non-synonymous variants in several genes, including a nonsense mutation in the ANOS1 gene which is an X-linked cause of Kallmann syndrome. WGS can provide insights into complex genetic disorders such as autism, and actionable incidental findings can offer the potential for therapeutic interventions.L20057047142020-05-05 <br />2020-07-02 <br />en
dc.language.isoenen
dc.relation.ispartofMolecular Genetics and Metabolism Reportsen
dc.titleWhole genome investigation of an atypical autism case identifies a novel ANOS1 mutation with subsequent diagnosis of Kallmann syndromeen
dc.typeArticleen
dc.identifier.doi10.1016/j.ymgmr.2020.100593en
dc.subject.keywordspyelonephritisen
dc.subject.keywordsschool childen
dc.subject.keywordswhole genome sequencingen
dc.subject.keywordshumanen
dc.subject.keywordsgenetic variabilityen
dc.subject.keywordsgeneen
dc.subject.keywordsfollow upen
dc.subject.keywordsDNA sequencingen
dc.subject.keywordsincidental findingen
dc.subject.keywordsabscessen
dc.subject.keywordsadenohypophysisen
dc.subject.keywordsandrogen therapyen
dc.subject.keywordsANOS1 geneen
dc.subject.keywordsarticleen
dc.subject.keywordsautismen
dc.subject.keywordsbehavior disorderen
dc.subject.keywordsbone ageen
dc.subject.keywordscase reporten
dc.subject.keywordsclinical examinationen
dc.subject.keywordsclinical articleen
dc.subject.keywordsgenomic DNAtestosteroneen
dc.subject.keywordsKallmann syndromeen
dc.subject.keywordsmaleen
dc.subject.keywordsmicropenisen
dc.subject.keywordsnonsense mutationen
dc.subject.keywordsnuclear magnetic resonance imagingen
dc.subject.keywordschilden
dc.relation.urlhttps://www.embase.com/search/results?subaction=viewrecord&id=L2005704714&from=exporthttp://dx.doi.org/10.1016/j.ymgmr.2020.100593 |en
dc.identifier.risid674en
item.grantfulltextnone-
item.fulltextNo Fulltext-
item.languageiso639-1en-
item.openairecristypehttp://purl.org/coar/resource_type/c_18cf-
item.cerifentitytypePublications-
item.openairetypeArticle-
Appears in Sites:Children's Health Queensland Publications
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