Esperon-Moldes, Uxia; Ginarte-Val, Manuel; Rodríguez-Pazos, Laura; Fachal, Laura; Martín-Santiago, Ana; Vicente, Asuncion; Jiménez-Gallo, David; Guillén-Navarro, Encarna; Martorell-Sampol, Loreto; González-Ensenat, María-Antonia; Vega, Ana
(PUBLIC LIBRARY SCIENCE, 2020-02-18)
Mutations in CYP4F22 cause autosomal recessive congenital ichthyosis (ARCI). However, less than 10% of all ARCI patients carry a mutation in CYP4F22. In order to identify the molecular basis of ARCI among our patients (a ...