Novel compound heterozygous FATP4 mutations caused ichthyosis prematurity syndrome in Spanish sisters

Esperon-Moldes, US; Ginarte, M; Santamarina, M; Rodriguez-Lage, B; Rodriguez-Pazos, L; Vega, A

Vega, A (reprint author), Univ Santiago de Compostela, Grp Med Xen, Fdn Publ Galega Med Xen SERGAS, CIBERER,IDIS, Santiago De Compostela, Spain.

ACTA PAEDIATRICA, 2019; 108 (4): 763