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) stand...

Full description

Autores:

Tejada Moreno, Johanna Alexandra
Villegas Lanau, Carlos Andrés
Mejía García, Alejandro
Restrepo, Jorge E.
Zambrano Cruz, Renato
Tamayo Agudelo, William
Bermúdez, Patricia
Duque, Constanza
Arroyave, Ismael
Gallego Quintero, Salomón
Taborda, Natalia A.
Zapata, Wildeman
Hernández, Juan C.
Cuartas Montoya, Gina

Tipo de recurso:

Article of investigation

Fecha de publicación:

2021

Institución:

Universidad de Antioquia

Repositorio:

Repositorio UdeA

Idioma:

eng

OAI Identifier:

oai:bibliotecadigital.udea.edu.co:10495/41098

Acceso en línea:

https://hdl.handle.net/10495/41098

Palabra clave:

ATP-Binding Cassette Transporters
Transportadoras de Casetes de Unión a ATP
Ichthyosis
Ictiosis
Ichthyosis, Lamellar
Ictiosis Lamelar
Mutation
Mutación
Colombia
https://id.nlm.nih.gov/mesh/D018528
https://id.nlm.nih.gov/mesh/D007057
https://id.nlm.nih.gov/mesh/D017490
https://id.nlm.nih.gov/mesh/D009154
https://id.nlm.nih.gov/mesh/D003105

Rights

openAccess

License

http://creativecommons.org/licenses/by/2.5/co/