First Spanish case of syndromic intellectual disability with dysmorphic facies, seizures, and distal limb anomalies caused by biallelic mutations in the OTUD6B gene - María José Sánchez-Soler; Ana Teresa Serrano-Antón; Vanesa López-González; María Juliana Ballesta Martínez; Encarna Guillén-Navarro (Elsevier, 2020)