Identification of a novel homozygous synthesis of cytochrome c oxidase 2 variant in siblings with early-onset axonal Charcot-Marie-Tooth disease.

by Gangfuß, Andrea, Hentschel, Andreas, Rademacher, Nina, Sickmann, Albert, Stüve, Burkhard, Horvath, Rita, Gross, Claudia, Kohlschmidt, Nicolai, Förster, Fabian, Abicht, Angela, Schänzer, Anne, Schara-Schmidt, Ulrike, Roos, Andreas, Della Marina, Adela
Published 2022

Homozygous WASHC4 variant in two sisters causes a syndromic phenotype defined by dysmorphisms, intellectual disability, profound developmental disorder, and skeletal muscle involve...

by Gangfuß, Andrea, Czech, Artur, Hentschel, Andreas, Münchberg, Ute, Horvath, Rita, Töpf, Ana, O'Heir, Emily, Lochmüller, Hanns, Stehling, Florian, Kiewert, Cordula, Sickmann, Albert, Kuechler, Alma, Kaiser, Frank J, Kölbel, Heike, Christiansen, Jon, Schara-Schmidt, Ulrike, Roos, Andreas
Published 2022

A de novo CSDE1 variant causing neurodevelopmental delay, intellectual disability, neurologic and psychiatric symptoms in a child of consanguineous parents.

by Gangfuß, Andrea, Lochmüller, Hanns, Töpf, Ana, O'Heir, Emily, Horvath, Rita, Kölbel, Heike, Schweiger, Bernd, Schara-Schmidt, Ulrike, Roos, Andreas
Published 2021