TY  - JOUR 
AU  - Montalván-Suárez, M.
AU  - Esperón Moldes, Uxía Saraiva
AU  - Rodríguez Pazos, Laura
AU  - Ordoñez Ugalde, Andrés
AU  - Moscoso, F.
AU  - Ugalde-Noritz, N.
AU  - Santomé Collazo, Luís
AU  - Fachal Vilar, Laura
AU  - Tettamanti-Miranda, D.
AU  - Ruiz, J. C.
AU  - Ginarte Val, Manuel Javier
AU  - Vega Gliemmo, Ana
PY  - 2019
SN  - 2324-9269
UR  - http://hdl.handle.net/20.500.11940/15521
AB  - BACKGROUND: 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...
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  - FPGMX
KW  - CHUS
KW  - CHUVI
KW  - IDIS
VL  - 7
ER  -