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

BACKGROUND: Ichthyosis 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...

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Detalles Bibliográficos
Autores principales:	Arias-Pérez, Ruben D., Gallego-Quintero, Salomón, Taborda, Natalia A., Restrepo, Jorge E., Zambrano-Cruz, Renato, Tamayo-Agudelo, William, Bermúdez, Patricia, Duque, Constanza, Arroyave, Ismael, Tejada-Moreno, Johanna A., Villegas-Lanau, Andrés, Mejía-García, Alejandro, Zapata, Wildeman, Hernandez, Juan C., Cuartas-Montoya, Gina
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2021
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8157432/ https://www.ncbi.nlm.nih.gov/pubmed/34039366 http://dx.doi.org/10.1186/s12920-021-00987-y

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