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