Urofacial (Ochoa) syndrome with a founder pathogenic variant in the HPSE2 gene: a case report and mutation origin. - Del Valle-Peréz M; Mejía-García A; Echeverri-López D; Gallo-Bonilla K; Tejada-Moreno JA; Villegas-Lanau A; Chvatal-Medina M; Restrepo JE; Cuartas-Montoya G; Zapata-Builes W (Journal of applied genetics, 2025)