Clinical and molecular study in a family with autosomal dominant hypohidrotic ectodermal dysplasia

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dc.contributor.authorCallea, Michele
dc.contributor.authorCammarata-Scalisi, Francisco
dc.contributor.authorWilloughby, Colin E.
dc.contributor.authorGiglio, Sabrina R.
dc.contributor.authorSani, Ilaria
dc.contributor.authorBargiacchi, Sara
dc.contributor.authorTraficante, Giovanna
dc.date.accessioned2024-04-24T17:27:51Z
dc.date.available2024-04-24T17:27:51Z
dc.date.issued2017
dc.departmentDicle Üniversitesien_US
dc.description.abstractHypohidrotic ectodermal dysplasia (HED) is a rare disease characterized by deficiency in development of structure derived from the ectoderm and is caused by mutations in the genes EDA, EDAR, or EDARADD. Phenotypes caused by mutations in these three may exhibit similar clinical features, explained by a common signaling pathway. Mutations in EDA gene cause X linked HED, which is the most common form. Mutations in EDAR and EDARADD genes cause autosomal dominant and recessive form of HED. The most striking clinical findings in HED are hypodontia, hypotrichosis and hypohidrosis that can lead to episodes of hyperthermia. We report on clinical findings in a child with HED with autosomal dominant inheritance pattern with a heterozygous mutation c.1072C>T (p.Arg358X) in the EDAR gene. A review of the literature with regard to other cases presenting the same mutation has been carried out and discussed.en_US
dc.identifier.doi10.5546/aap.2017.e34
dc.identifier.endpageE38en_US
dc.identifier.issn0325-0075
dc.identifier.issn1668-3501
dc.identifier.issue1en_US
dc.identifier.pmid28097853
dc.identifier.scopus2-s2.0-85012254095
dc.identifier.scopusqualityQ3
dc.identifier.startpageE34en_US
dc.identifier.urihttps://doi.org/10.5546/aap.2017.e34
dc.identifier.urihttps://hdl.handle.net/11468/20227
dc.identifier.volume115en_US
dc.identifier.wosWOS:000396624200022
dc.identifier.wosqualityQ4
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.language.isoesen_US
dc.publisherSoc Argentina Pediatriaen_US
dc.relation.ispartofArchivos Argentinos De Pediatria
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectEctodermal Dysplasiaen_US
dc.subjectEctodermal Dysplasia Hypohidrotic Autosomal Dominant Inheritanceen_US
dc.subjectEdar Receptoren_US
dc.subjectC.1072c > Ten_US
dc.subjectP.Arg358xen_US
dc.titleClinical and molecular study in a family with autosomal dominant hypohidrotic ectodermal dysplasiaen_US
dc.titleClinical and molecular study in a family with autosomal dominant hypohidrotic ectodermal dysplasia
dc.typeArticleen_US

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