A novel ABCA12 pathologic variant identified in an Ecuadorian harlequin ichthyosis patient: A step forward in genotype-phenotype correlations

Article

Abstract: Background: Autosomal recessive congenital ichthyoses (ARCI) have been associated with different phe

Palabras claves:

ABCA12 gene, Autosomal recessive congenital ichthyoses (ARCI), congenital ichthyosiform erythroderma (CIE), harlequin ichthyosis (HI), lamellar ichthyosis (LI), splice-site pathogenic variant

Autores:

Daniel Tettamanti-Miranda, Esperón-Moldes U.S., Fachal L., Ginarte M., Juan Carlos Ruiz, Martha Montalván-Suárez, Moscoso F., Ordoñez-Ugalde A., Rodríguez-Pazos L., Santomé L., Ugalde-Noritz N., Vega A.

Fuentes:

scopus