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

Ruth J Falb; Amelie J Müller; Wolfram Klein; Mona Grimmel; Ute Grasshoff; Stephanie Spranger; Petra Stöbe; Darja Gauck; Alma Kuechler; Nicola Dikow; Eva M C Schwaibold; Christoph Schmidt; Luisa Averdunk; Rebecca Buchert; Tilman Heinrich; Natalia Prodan; Joohyun Park; Martin Kehrer; Marc Sturm; Olga Kelemen; Silke Hartmann; Denise Horn; Dirk Emmerich; Nina Hirt; Armin Neumann; Glen Kristiansen; Ulrich Gembruch; Susanne Haen; Reiner Siebert; Sabine Hentze; Markus Hoopmann; Stephan Ossowski; Stephan Waldmüller; Stefanie Beck-Wödl; Dieter Gläser; Ismail Tekesin; Felix Distelmaier; Olaf Riess; Karl-Oliver Kagan; Andreas Dufke; Tobias B Haack

doi:10.1136/jmedgenet-2021-108064

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

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Ruth J Falb Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany PubMed articles Google scholar articles
Amelie J Müller Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany PubMed articles Google scholar articles
Wolfram Klein genetikum Stuttgart, Stuttgart, Germany PubMed articles Google scholar articles
Mona Grimmel Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany PubMed articles Google scholar articles
Ute Grasshoff Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany PubMed articles Google scholar articles
Stephanie Spranger Practice of Human Genetics, Bremen, Germany PubMed articles Google scholar articles
Petra Stöbe Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany PubMed articles Google scholar articles
Darja Gauck Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany PubMed articles Google scholar articles
Alma Kuechler Institute of Human Genetics, University Hospital Essen, Essen, Germany PubMed articles Google scholar articles
Nicola Dikow Institute of Human Genetics, Heidelberg University, Heidelberg, Germany PubMed articles Google scholar articles
Eva M C Schwaibold Institute of Human Genetics, Heidelberg University, Heidelberg, Germany PubMed articles Google scholar articles
Christoph Schmidt genetikum Neu-Ulm, Neu-Ulm, Germany PubMed articles Google scholar articles
Luisa Averdunk Department of General Pediatrics, Neonatology and Pediatric Cardiology, Heinrich-Heine-University Dusseldorf, Dusseldorf, Germany PubMed articles Google scholar articles
Rebecca Buchert Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany PubMed articles Google scholar articles
Tilman Heinrich Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany PubMed articles Google scholar articles
Natalia Prodan Department of Women's Health, University Women's Hospital, Tuebingen, Germany PubMed articles Google scholar articles
Joohyun Park Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany PubMed articles Google scholar articles
Martin Kehrer Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany PubMed articles Google scholar articles
Marc Sturm Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany PubMed articles Google scholar articles
Olga Kelemen Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany PubMed articles Google scholar articles
Silke Hartmann genetikum Neu-Ulm, Neu-Ulm, Germany PubMed articles Google scholar articles
Denise Horn Institute of Medical and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany PubMed articles Google scholar articles
Dirk Emmerich Practice for Ultrasound and Prenatal Medicine, Freiburg, Germany PubMed articles Google scholar articles
Nina Hirt Institute of Human Genetics, University Medical Center Freiburg, Freiburg, Germany PubMed articles Google scholar articles
Armin Neumann Practice for Prenatal Medicine, Bremen, Germany PubMed articles Google scholar articles
Glen Kristiansen Institute of Pathology, Center for Integrated Oncology, University of Bonn, Bonn, Germany PubMed articles Google scholar articles
Ulrich Gembruch Department of Obstetrics and Prenatal Medicine, University Hospital Bonn, Bonn, Germany PubMed articles Google scholar articles
Susanne Haen Institute of Pathology and Neuropathology, University of Tuebingen, Tuebingen, Germany PubMed articles Google scholar articles
Reiner Siebert Institute of Human Genetics, Ulm University and Ulm University Medical Center, Ulm, Germany PubMed articles Google scholar articles
Sabine Hentze Practice for Human Genetics, Heidelberg, Germany PubMed articles Google scholar articles
Markus Hoopmann Department of Women's Health, University Women's Hospital, Tuebingen, Germany PubMed articles Google scholar articles
Stephan Ossowski Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany PubMed articles Google scholar articles
Stephan Waldmüller Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany PubMed articles Google scholar articles
Stefanie Beck-Wödl Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany PubMed articles Google scholar articles
Dieter Gläser genetikum Neu-Ulm, Neu-Ulm, Germany PubMed articles Google scholar articles
Ismail Tekesin Prenatal Medicine Stuttgart, Stuttgart, Germany PubMed articles Google scholar articles
Felix Distelmaier Department of General Pediatrics, Neonatology and Pediatric Cardiology, Heinrich-Heine-University Dusseldorf, Dusseldorf, Germany PubMed articles Google scholar articles
Olaf Riess Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany Centre for Rare Diseases, University of Tuebingen, Tuebingen, Germany PubMed articles Google scholar articles
Karl-Oliver Kagan Department of Women's Health, University Women's Hospital, Tuebingen, Germany PubMed articles Google scholar articles
Andreas Dufke Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany Centre for Rare Diseases, University of Tuebingen, Tuebingen, Germany PubMed articles Google scholar articles
Tobias B Haack Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany Centre for Rare Diseases, University of Tuebingen, Tuebingen, Germany PubMed articles Google scholar articles

Correspondence to Dr Amelie J Müller; Amelie.Mueller{at}med.uni-tuebingen.de

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Falb RJ, Müller AJ, Klein W, et al

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

Journal of Medical Genetics 2023;60:48-56.

Publication history

Received June 27, 2021
Accepted October 14, 2021
First published November 5, 2021.

Online issue publication

December 23, 2022

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