Please use this identifier to cite or link to this item: https://ahro.austin.org.au/austinjspui/handle/1/21502
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dc.contributor.authorBeal, Bryony-
dc.contributor.authorHayes, Ian-
dc.contributor.authorMcGaughran, Julie-
dc.contributor.authorAmor, David J-
dc.contributor.authorMiteff, Christina-
dc.contributor.authorJackson, Victoria-
dc.contributor.authorvan Reyk, Olivia-
dc.contributor.authorSubramanian, Gopinath-
dc.contributor.authorHildebrand, Michael S-
dc.contributor.authorMorgan, Angela T-
dc.contributor.authorGoel, Himanshu-
dc.date2019-07-03-
dc.date.accessioned2019-08-12T05:01:10Z-
dc.date.available2019-08-12T05:01:10Z-
dc.date.issued2019-10-
dc.identifier.citationClinical dysmorphology 2019; 28(4): 169-174-
dc.identifier.urihttps://ahro.austin.org.au/austinjspui/handle/1/21502-
dc.description.abstractPathogenic variants in DDX3X have recently been identified to be a relatively common cause of intellectual disability in females. In this study, we describe six female probands, from five unrelated families, with five novel heterozygous variants in DDX3X, and the identification of potential germline mosaicism. Consistent features between this cohort and previously described cases include developmental delay or intellectual disability, growth disturbance and movement disorder. Common facial dysmorphism within the cohort include short palpebral fissures, micrognathia, bulbous nasal tip, protruding ears, high arched palate, thin upper vermillion and smooth philtrum. Novel clinical features identified from this cohort include facial dysmorphisms, perinatal complications, valgus feet deformity, lipoatrophy, dystonic episodes, and cutaneous mastocytosis. This case series attempts to expand the phenotype of the DDX3X syndrome; however, it remains heterogeneous. Description of further cases is required to more accurately identify the significance of novel phenotypes within this cohort.-
dc.language.isoeng-
dc.titleExpansion of phenotype of DDX3X syndrome: six new cases.-
dc.typeJournal Article-
dc.identifier.journaltitleClinical dysmorphology-
dc.identifier.affiliationUniversity of Newcastle, Callaghan-
dc.identifier.affiliationWalter and Elisa Hall Institute, Melbourne, Australiaen
dc.identifier.affiliationGenetic Health Service New Zealand-Northern Hub, Auckland, New Zealanden
dc.identifier.affiliationGenetic Health Queensland, Brisbane-
dc.identifier.affiliationMurdoch Children's Research Institute, Royal Children's Hospital-
dc.identifier.affiliationJohn Hunter Children's Hospital, New Lambton Heights-
dc.identifier.affiliationEpilepsy Research Centre, Department of Medicine, Austin Health, The University of Melbourne, Heidelberg, Victoria, Australia-
dc.identifier.affiliationUniversity of Melbourne, Parkville-
dc.identifier.affiliationUniversity of Newcastle, Callaghan Hunter Genetics, Waratah, NSW-
dc.identifier.doi10.1097/MCD.0000000000000289-
dc.identifier.orcid0000-0003-2739-0515-
dc.identifier.pubmedid31274575-
dc.type.austinJournal Article-
local.name.researcherHildebrand, Michael S
item.openairetypeJournal Article-
item.cerifentitytypePublications-
item.fulltextNo Fulltext-
item.grantfulltextnone-
item.languageiso639-1en-
item.openairecristypehttp://purl.org/coar/resource_type/c_18cf-
crisitem.author.deptEpilepsy Research Centre-
crisitem.author.deptMedicine (University of Melbourne)-
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