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dc.contributor.authorIRVINE, ALANen
dc.date.accessioned2016-02-25T14:00:44Z
dc.date.available2016-02-25T14:00:44Z
dc.date.issued2014en
dc.date.submitted2014en
dc.identifier.citationKiely C, Devaney D, Fischer J, Lenane P, Irvine AD, Ichthyosis prematurity syndrome: a case report and review of known mutations., Pediatric dermatology, 31, 4, 2014, 517-8en
dc.identifier.issn0736-8046en
dc.identifier.otherYen
dc.identifier.urihttp://hdl.handle.net/2262/75985
dc.descriptionPUBLISHEDen
dc.description.abstractIchthyosis prematurity syndrome (IPS; Mendelian Inheritance in Man 608649) is classified as a syndromic autosomal recessive ichthyosis. Here we describe two siblings with IPS and report a recurrent homozygous mutation (c.1430T>A) that is predicted to lead to a p.Val477Asp substitution in fatty acid transport protein 4. This mutation has arisen for the second time in an entirely distinct population from the Scandinavian population where it was first described.en
dc.format.extent517-8en
dc.relation.ispartofseriesPediatric dermatologyen
dc.relation.ispartofseries31en
dc.relation.ispartofseries4en
dc.rightsYen
dc.subjectIchthyosis prematurity syndromeen
dc.titleIchthyosis prematurity syndrome: a case report and review of known mutations.en
dc.typeJournal Articleen
dc.type.supercollectionscholarly_publicationsen
dc.type.supercollectionrefereed_publicationsen
dc.identifier.peoplefinderurlhttp://people.tcd.ie/irvineaen
dc.identifier.rssinternalid112980en
dc.identifier.doihttp://dx.doi.org/10.1111/pde.12320en
dc.rights.ecaccessrightsopenAccess
dc.identifier.orcid_id0000-0002-9048-2044en


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