| dc.contributor.author | IRVINE, ALAN | en |
| dc.date.accessioned | 2016-02-25T14:00:44Z | |
| dc.date.available | 2016-02-25T14:00:44Z | |
| dc.date.issued | 2014 | en |
| dc.date.submitted | 2014 | en |
| dc.identifier.citation | Kiely 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, 517-8 | en |
| dc.identifier.issn | 0736-8046 | en |
| dc.identifier.other | Y | en |
| dc.description | PUBLISHED | en |
| dc.description.abstract | Ichthyosis 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.extent | 517-8 | en |
| dc.relation.ispartofseries | Pediatric dermatology | en |
| dc.relation.ispartofseries | 31 | en |
| dc.relation.ispartofseries | 4 | en |
| dc.rights | Y | en |
| dc.subject | Ichthyosis prematurity syndrome | en |
| dc.title | Ichthyosis prematurity syndrome: a case report and review of known mutations. | en |
| dc.type | Journal Article | en |
| dc.type.supercollection | scholarly_publications | en |
| dc.type.supercollection | refereed_publications | en |
| dc.identifier.peoplefinderurl | http://people.tcd.ie/irvinea | en |
| dc.identifier.rssinternalid | 112980 | en |
| dc.identifier.doi | http://dx.doi.org/10.1111/pde.12320 | en |
| dc.rights.ecaccessrights | openAccess | |
| dc.identifier.orcid_id | 0000-0002-9048-2044 | en |
| dc.identifier.uri | http://hdl.handle.net/2262/75985 | |
