Woldegebriel, Rosa; Kvist, Jouni; Andersson, Noora; Õunap, Katrin; Reinson, Karit; Wojcik, Monica H.; Bijlsma, Emilia K.; Hoffer, Mariëtte J.V.; Ryan, Monique M.; Stark, Zornitza; Walsh, Maie; Cuppen, Inge; van den Boogaard, Marie Jose H.; Bharucha-Goebel, Diana; Donkervoort, Sandra; Winchester, Sara; Zori, Roberto; Bönnemann, Carsten G.; Maroofian, Reza; O'Connor, Emer; Houlden, Henry; Zhao, Fang; Carpén, Olli; White, Matthew; Sreedharan, Jemeen; Stewart, Murray; Ylikallio, Emil; Tyynismaa, Henna
(Oxford University Press, 2020-06-03)
Defects in the mRNA export scaffold protein GANP, encoded by the MCM3AP gene, cause autosomal recessive early-onset peripheral neuropathy with or without intellectual disability. We extend here the phenotypic range associated ...