Comprehensive genotyping and clinical characterisation reveal 27 novel NKX2-1 mutations and expand the phenotypic spectrum
Anne Thorwarth(Max Planck Institute for Molecular Genetics), Heiko Krude(Humboldt-Universität zu Berlin), Hans‐Hilger Ropers(Max Planck Institute for Molecular Genetics), Reinhard Ullmann(Universität der Bundeswehr München), Gunnar Kleinau(Humboldt-Universität zu Berlin), Anne Steininger(Max Planck Institute for Molecular Genetics), Ines Müller(Mount Sinai Hospital), Francis deZegher(KU Leuven), Klaus Kapelari(Cal Poly Humboldt), Patricia Crock(John Hunter Children's Hospital), Jacqueline Hewitt(The University of Melbourne), Pamela Schrumpf(Charité - Universitätsmedizin Berlin), Annette Grüters(Unknown), Christof Dame, Markus Schuelke(Humboldt-Universität zu Berlin), D. Rating(Defence Research and Development Organisation), Iva Stoeva(Medical University of Sofia), Carsten G. Bönnemann(National Institute of Neurological Disorders and Stroke), Knut Brockmann(Universitätsmedizin Göttingen), Matthias Griese(Universitäts-Kinderklinik Würzburg), Grit Ebert(Max Planck Institute for Molecular Genetics), Barbara Plecko(Graz University Hospital), Juri Katchanov(Charité - Universitätsmedizin Berlin), Sarah Schnittert-Hübener(Charité - Universitätsmedizin Berlin), Sabine Jyrch(Charité - Universitätsmedizin Berlin), H.‐J. Christen(Areté Associates (United States)), Heike Biebermann(Humboldt-Universität zu Berlin), Sten A. Ivarsson(Lund University), Christoph Hübner(University Hospital Carl Gustav Carus)
Cited by 114
Related Papers
Severe early-onset obesity, adrenal insufficiency and red hair pigmentation caused by POMC mutations in humans
|Nature Genetics|1998|1.7k
Abnormal Behavior Associated with a Point Mutation in the Structural Gene for Monoamine Oxidase A
|Science|1993|1.6k
Improving genetic diagnosis in Mendelian disease with transcriptome sequencing
|Science Translational Medicine|2017|809
X-Linked Mental Retardation and Autism Are Associated with a Mutation in the NLGN4 Gene, a Member of the Neuroligin Family
|The American Journal of Human Genetics|2004|762