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dc.contributor.authorComan, David
dc.contributor.authorFullston, Tom
dc.contributor.authorShoubridge, Cheryl
dc.contributor.authorLeventer, Richard
dc.contributor.authorWong, Flora
dc.contributor.authorNazaretian, Simon
dc.contributor.authorSimpson, Ian
dc.contributor.authorGecz, Josef
dc.contributor.authorMcGillivray, George
dc.date.accessioned2018-06-18T00:07:02Z
dc.date.available2018-06-18T00:07:02Z
dc.date.issued2017
dc.identifier.issn2329-048X
dc.identifier.doi10.1177/2329048X17738625
dc.identifier.urihttp://hdl.handle.net/10072/377024
dc.description.abstractX-linked lissencephaly with abnormal genitalia is a rare and devastating syndrome. The authors present an infant with a multisystem phenotype where the intestinal manifestations were as life limiting as the central nervous system features. Severe chronic diarrhea resulted in failure to thrive, dehydration, electrolyte derangements, long-term hospitalization, and prompted transition to palliative care. Other multisystem manifestations included megacolon, colitis, pancreatic insufficiency hypothalamic dysfunction, hypothyroidism, and hypophosphatasia. A novel aristaless-related homeobox gene mutation, c.1136G>T/p.R379L, was identified. This case contributes to the clinical, histological, and molecular understanding of the multisystem nature of this disorder, especially the role of ARX in the development of the enteroendocrine system.
dc.description.peerreviewedYes
dc.languageEnglish
dc.language.isoeng
dc.publisherSage Publications
dc.relation.ispartofpagefrom1
dc.relation.ispartofpageto6
dc.relation.ispartofjournalChild Neurology Open
dc.relation.ispartofvolume4
dc.subject.fieldofresearchClinical sciences not elsewhere classified
dc.subject.fieldofresearchcode320299
dc.titleX-Linked Lissencephaly With Absent Corpus Callosum and Abnormal Genitalia: An Evolving Multisystem Syndrome With Severe Congenital Intestinal Diarrhea Disease
dc.typeJournal article
dc.type.descriptionC1 - Articles
dc.type.codeC - Journal Articles
dcterms.licensehttp://creativecommons.org/licenses/by/4.0/
dc.description.versionVersion of Record (VoR)
gro.facultyGriffith Health, School of Medicine
gro.rights.copyright© The Author(s) 2017. This is an Open Access article distributed under the terms of the Creative Commons Attribution 4.0 International (http://creativecommons.org/licenses/by/4.0/) which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
gro.hasfulltextFull Text
gro.griffith.authorComan, Dave J.


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