TY  - JOUR 
AU  - Montalván‐Suárez, Martha
AU  - Saraiva Esperón, Uxía
AU  - Rodríguez Pazos, Laura
AU  - Ordóñez‐Ugalde, Andrés
AU  - Moscoso, Fernanda
AU  - Ugalde‐Noritz, Nora
AU  - Santomé Collazo, Luís
AU  - Fachal Vilar, Laura
AU  - Tettamanti‐Miranda, Daniel
AU  - Ruiz, Juan Carlos
AU  - Ginarte  Val, Manuel Javier
AU  - Vega Gliemmo, Ana
PY  - 2019
SN  - 2324-9269
UR  - http://hdl.handle.net/20.500.11940/12841
AB  - 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...
LA  - eng
KW  - Ichthyosiform Erythroderma, Congenital
KW  - Prenatal Diagnosis
KW  - Research Support, Non-U.S. Gov't
KW  - Ichthyosis, Lamellar
KW  - Case Reports
KW  - Phenotype
KW  - Codon, Nonsense
KW  - Mutation, Missense
KW  - RNA Splice Sites
KW  - ATP Binding Cassette Transporter 1
TI  - A novel ABCA12 pathologic variant identified in an Ecuadorian harlequin ichthyosis patient: A step forward in genotype‐phenotype correlations
DO  - 10.1002/mgg3.608
T2  - Molecular Genetics & Genomic Medicine
M2  - e608
KW  - Gen ABCA12
KW  - Harlequin ichthyosis (HI)
KW  - Autosomal recessive congenital ichthyoses (ARCI)
VL  - 7
ER  -