A novelABCA12pathologic variant identified in an Ecuadorian harlequin ichthyosis patient: A step forward in genotype‐phenotype correlations

Autor: Fernanda Moscoso, Uxia Esperón-Moldes, Andrés Ordóñez-Ugalde, Daniel Tettamanti-Miranda, Laura Rodríguez-Pazos, Juan Carlos Ruiz, Ana Vega, Martha Montalván-Suárez, Nora Ugalde-Noritz, Manuel Ginarte, Laura Fachal, Luis Santomé

Publikováno v: RUNA. Repositorio da Consellería de Sanidade e Sergas
Servizo Galego de Saúde (SERGAS)
Molecular Genetics & Genomic Medicine

Autosomal recessive congenital ichthyoses (ARCI) have been associated with different phenotypes including: harlequin ichthyosis (HI), congenital ichthyosiform erythroderma (CIE), and lamellar ichthyosis (LI). While pathogenic variants in all ARCI gen

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4343e7bc2a844acacb0d3fdaf5747dbf
https://doi.org/10.1002/mgg3.608