Publication:
Ichthyosis : case report in a Colombian man with genetic alterations in ABCA12 and HRNR genes

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dc.contributor.authorArias Pérez, Rubén Darío
dc.contributor.authorGallego Quintero, Salomón
dc.contributor.authorTaborda Vanegas, Natalia Andrea
dc.contributor.authorRestrepo, Jorge E.
dc.contributor.authorZambrano Cruz, Renato
dc.contributor.authorTamayo Agudelo, William
dc.contributor.authorBermúdez, Patricia
dc.contributor.authorDuque, Constanza
dc.contributor.authorArroyave, Ismael
dc.contributor.authorTejada Moreno, Johanna A.
dc.contributor.authorVillegas Lanau, Andrés
dc.contributor.authorMejía García, Alejandro
dc.contributor.authorZapata, Wildeman
dc.contributor.authorHernandez, Juan C.
dc.contributor.authorCuartas-Montoya, Gina
dc.contributor.otherGrupo de Investigaciones BIOMÉDICAS
dc.date.accessioned2026-05-25T18:44:09Z
dc.date.issued2021
dc.description.abstractIchthyosis is a heterogeneous group of diseases caused by genetic disorders related to skin formation. They are characterized by generalized dry skin, scaling, hyperkeratosis and frequently associated with erythroderma. Among its different types, harlequin ichthyosis (HI) stands out due to its severity. HI is caused by mutations in the ABCA12 gene, which encodes essential proteins in epidermal lipid transport, and it helps maintain the homeostasis of the stratum corneum of the epidermis. However, due to the wide spectrum of genetic alterations that can cause ichthyosis, holistic medical care, and genetic studies are required to improve the diagnosis and outcomes of these diseases.eng
dc.format.mimetypeapplication/pdfspa
dc.identifier.doi10.1186/s12920-021-00987-y
dc.identifier.issn1755-8794
dc.identifier.urihttps://repositorio.uniremington.edu.co/handle/123456789/9646
dc.identifier.urihttps://doi.org/10.1186/s12920-021-00987-y
dc.language.isoeng
dc.publisherSpringer Science and Business Media LLC
dc.publisher.placeReino Unidospa
dc.relation.ispartofBMC Medical Genomics
dc.rightsDerechos Reservados - Corporación Universitaria Remington, 2026spa
dc.rights.accessrightsinfo:eu-repo/semantics/openAccessspa
dc.subjectHarlequin Ichthyosiseng
dc.subjectCongenital Ichthyosiseng
dc.subjectIchthyosis, Skin Diseaseeng
dc.subject.armarcEnfermedades genéticasspa
dc.subject.armarcPiel - Enfermedadesspa
dc.subject.armarcGenética médicaspa
dc.titleIchthyosis : case report in a Colombian man with genetic alterations in ABCA12 and HRNR geneseng
dc.typeArtículo de revista
dc.type.coarhttp://purl.org/coar/resource_type/c_6501spa
dc.type.coarversionhttp://purl.org/coar/version/c_970fb48d4fbd8a85spa
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dc.type.localArtículo de revistaspa
dc.type.redcolhttp://purl.org/redcol/resource_type/ARTspa
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