Ambrozkiewicz, Mateusz C; Borisova, Ekaterina; Schwark, Manuela; Ripamonti, Silvia; Schaub, Theres; Smorodchenko, Alina; Weber, A Ioana; Rhee, Hong Jun; Altas, Bekir; Yilmaz, Rüstem; Mueller, Susanne; Piepkorn, Lars; Horan, Stephen T; Straussberg, Rachel; Zaqout, Sami; Jahn, Olaf; Dere, Ekrem; Rosário, Marta; Boehm-Sturm, Philipp; Borck, Guntram; Willig, Katrin I; Rhee, JeongSeop; Tarabykin, Victor; Kawabe, Hiroshi... more authors ... less authors (
Springer Nature
, 2020 , Article)
Kaufman oculocerebrofacial syndrome (KOS) is a severe autosomal recessive disorder characterized by intellectual disability, developmental delays, microcephaly, and characteristic dysmorphisms. Biallelic mutations of UBE3B, ...