Bi-allelic loss-of-function variants in KIF21A cause severe fetal akinesia with arthrogryposis multiplex

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Bi-allelic loss-of-function variants in KIF21A cause severe fetal akinesia with arthrogryposis multiplex

Author: Falb, Ruth J.; Mueller, Amelie J.; Klein, Wolfram; Grimmel, Mona; Grasshoff, Ute; Spranger, Stephanie; Stoebe, Petra; Gauck, Darja; Kuechler, Alma; Dikow, Nicola; Schwaibold, Eva M. C.; Schmidt, Christoph; Averdunk, Luisa; Buchert, Rebecca; Heinrich, Tilman; Prodan, Natalia; Park, Joohyun; Kehrer, Martin; Sturm, Marc; Kelemen, Olga; Hartmann, Silke; Horn, Denise; Emmerich, Dirk; Hirt, Nina; Neumann, Armin; Kristiansen, Glen; Gembruch, Ulrich; Haen, Susanne; Siebert, Reiner; Hentze, Sabine; Hoopmann, Markus; Ossowski, Stephan; Waldmueller, Stephan; Beck-Woedl, Stefanie; Glaeser, Dieter; Tekesin, Ismail; Distelmaier, Felix; Riess, Olaf; Kagan, Karl-Oliver; Dufke, Andreas; Haack, Tobias B.
Tübinger Autor(en):
Grimmel, Mona
Grasshoff, Ute
Gauck, Darja
Heinrich, Tilman
Prodan, Natalia
Park, Joohyun
Kehrer, Martin
Sturm, Marc
Kelemen, Olga
Haen, Susanne
Hoopmann, Markus
Ossowski, Stephan
Dufke, Andreas
Falb, Ruth
Müller, Amelie Johanna
Stöbe, Petra
Waldmüller, Stephan
Beck-Wödl, Stefanie
Rieß, Olaf
Kagan, Karl Oliver
Haack, Tobias
Published in: Journal of Medical Genetics (2023), Bd. 60, H. 1, S. 48-56
Verlagsangabe: Bmj Publishing Group
Language: English
Full text: http://dx.doi.org/10.1136/jmedgenet-2021-108064
ISSN: 0022-2593
DDC Classifikation: 570 - Life sciences; biology
610 - Medicine and health
Dokumentart: Article
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