Martínez-Romero, María-Carmen; Hernández-Contreras, María-Encarnación; Bafalliu-Vidal, Juan-Antonio; Barreda-Sánchez, María; Martínez-Menchón, Teresa; Cabello-Chaves, Virginia; Guillén-Navarro, Encarna
(MDPI, 2024-06)
HELIX syndrome (Hypohidrosis-Electrolyte disturbances-hypoLacrimia-Ichthyosis-Xerostomia) (MIM#617671) (ORPHA:528105), described in 2017, is due to an abnormal claudin 10 b protein, secondary to pathogenic CLDN10 variants. ...