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

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

Abstract 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...

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Main Authors: Ruben D. Arias-Pérez, Salomón Gallego-Quintero, Natalia A. Taborda, Jorge E. Restrepo, Renato Zambrano-Cruz, William Tamayo-Agudelo, Patricia Bermúdez, Constanza Duque, Ismael Arroyave, Johanna A. Tejada-Moreno, Andrés Villegas-Lanau, Alejandro Mejía-García, Wildeman Zapata, Juan C. Hernandez, Gina Cuartas-Montoya
Format: Article
Language:English
Published: BMC 2021-05-01
Series:BMC Medical Genomics
Subjects:
Harlequin ichthyosis
Congenital ichthyosis
Ichthyosis
Skin disease
Case report
Online Access:https://doi.org/10.1186/s12920-021-00987-y

Internet

https://doi.org/10.1186/s12920-021-00987-y

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