Article
Bi-allelic loss-of-function variants in KIF21A cause severe fetal akinesia with arthrogryposis multiplex.
Journal of medical genetics - 1 Jan 2023
Falb Ruth J, Müller Amelie J, Klein Wolfram, Grimmel Mona, Grasshoff Ute, Spranger Stephanie, Stöbe 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, Waldmüller Stephan, Beck-Wödl Stefanie, Gläser Dieter, Tekesin Ismail, Distelmaier Felix, Riess Olaf, Kagan Karl-Oliver, Dufke Andreas, Haack Tobias B
Abstract excerpt
BACKGROUND: Fetal akinesia (FA) results in variable clinical presentations and has been associated with more than 166 different disease loci. However, the underlying molecular cause remains unclear in many individuals. We aimed to further define the set of genes involved. METHODS: We performed in-depth clinical characterisation and exome sequencing on a cohort of 23 FA index cases sharing arthrogryposis as a...
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