Clinical and molecular study in a child with X-linked hypohidrotic ectodermal dysplasia

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dc.contributor.authorCallea, Michele
dc.contributor.authorYavuz, Izzet
dc.contributor.authorClarich, Gabriella
dc.contributor.authorCammarata-Scalisi, Francisco
dc.date.accessioned2024-04-24T17:27:51Z
dc.date.available2024-04-24T17:27:51Z
dc.date.issued2015
dc.departmentDicle Üniversitesien_US
dc.description.abstractEctodermal dysplasia encompasses more than 200 clinically distinct entities, which affect at least two structures derived from the ectoderm, including the skin, hair, nails, teeth, sweat glands, and sebaceous glands. X-linked hypohidrotic ectodermal dysplasia is the most common type and is caused by mutation of the EDA gene that encodes Ectodysplasin-A. It occurs in less than 1 in 100 000 individuals and is clinically characterized by hypodontia, hypohidrosis, hypotrichosis, and eye disorders. We present a child evaluated in a multidisciplinary manner with clinical and molecular diagnosis of X-linked hypohidrotic ectodermal dysplasia with type missense mutation c.1133C>T; p.T378M in EDA gene.en_US
dc.identifier.doi10.5546/aap.2015.e341
dc.identifier.endpageE344en_US
dc.identifier.issn0325-0075
dc.identifier.issn1668-3501
dc.identifier.issue6en_US
dc.identifier.pmid26593813
dc.identifier.startpageE341en_US
dc.identifier.urihttps://doi.org/10.5546/aap.2015.e341
dc.identifier.urihttps://hdl.handle.net/11468/20222
dc.identifier.volume113en_US
dc.identifier.wosWOS:000368363700008
dc.identifier.wosqualityQ4
dc.indekslendigikaynakWeb of Science
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.subjectX-Linked Hypohidrotic Ectodermal Dysplasiaen_US
dc.subjectEdaen_US
dc.subjectC.1133c > Ten_US
dc.subjectP.T378men_US
dc.titleClinical and molecular study in a child with X-linked hypohidrotic ectodermal dysplasiaen_US
dc.titleClinical and molecular study in a child with X-linked hypohidrotic ectodermal dysplasia
dc.typeArticleen_US

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