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Homozygous WASHC4 variant in two sisters causes a syndromic..:
Gangfuß, Andrea
;
Czech, Artur
;
Hentschel, Andreas
...
The Journal of Pathology. 256 (2021) 1 - p. 93-107 , 2021
Link:
https://doi.org/10.1002/path.5812
RT Journal T1
Homozygous WASHC4 variant in two sisters causes a syndromic phenotype defined by dysmorphisms, intellectual disability, profound developmental disorder, and skeletal muscle involvement
UL https://suche.suub.uni-bremen.de/peid=cr-10.1002_path.5812&Exemplar=1&LAN=DE A1 Gangfuß, Andrea A1 Czech, Artur A1 Hentschel, Andreas A1 Münchberg, Ute A1 Horvath, Rita A1 Töpf, Ana A1 O'Heir, Emily A1 Lochmüller, Hanns A1 Stehling, Florian A1 Kiewert, Cordula A1 Sickmann, Albert A1 Kuechler, Alma A1 Kaiser, Frank J. A1 Kölbel, Heike A1 Christiansen, Jon A1 Schara‐Schmidt, Ulrike A1 Roos, Andreas PB Wiley YR 2021 SN 0022-3417 SN 1096-9896 JF The Journal of Pathology VO 256 IS 1 SP 93 OP 107 LK http://dx.doi.org/https://doi.org/10.1002/path.5812 DO https://doi.org/10.1002/path.5812 SF ELIB - SuUB Bremen
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