Home
→
Recerca: articles, congressos, llibres
→
Center for Genomic Regulation (CRG)
→
Browsing Center for Genomic Regulation (CRG) by Author

Browsing Center for Genomic Regulation (CRG) by Author "O'Heir, Emily"

Now showing items 1-1 of 1

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

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 (Wiley, 2022)

Recessive variants in WASHC4 are linked to intellectual disability complicated by poor language skills, short stature, and dysmorphic features. The protein encoded by WASHC4 is part of the Wiskott-Aldrich syndrome protein ...

Now showing items 1-1 of 1

Search DSpace

Advanced Search

Browse

All of DSpace
This Community
- Titles
- Authors
- Subjects
- By Issue Date

My Account

Login

In collaboration with Compliant to Partaking