"A novel TGM1 mutation, leading to multiple splicing rearrangements, is associated with autosomal recessive congenital ichthyosis"

"Summary Autosomal recessive congenital ichthyosis (ARCI) is a group of rare, clinically heterogeneous skin disorders that affect cornification. ARCI includes lamellar ichthyosis, congenital ichthyosiform erythroderma and harlequin ichthyosis. TGM1 mutations cause > 50% of ARCI cases in the...

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Detalles Bibliográficos
Autores Principales: Ortega?Recalde, O., Moreno, M. B., Vergara, J. I., Fonseca-Mendoza, Dora Janeth, Rojas, R. F., Mosquera, H., Medina, C. L., Restrepo, C. M., Laissue, P.
Formato: Artículo (Article)
Lenguaje:Inglés (English)
Publicado: Blackwell Publishing Ltd 2015
Materias:
Acceso en línea:https://repository.urosario.edu.co/handle/10336/23667
https://doi.org/10.1111/ced.12627