Phenotypic spectrum associated with CASK loss-of-function mutations
Year: 2011
Type: article
Study design: Observational Study
Source: Journal of Medical Genetics
Authors: Ute Moog, Kerstin Kutsche, Fanny Kortüm, Bettina Chilian, Tatjana Bierhals, Neophytos Apeshiotis, Stefanie Balg, Nicolas Chassaing, Christine Coubes, Soma Das, Hartmut Engels, Hilde Van Esch, Ute Grasshoff, Marisol Heise, Bertrand Isidor, Joanna Jarvis, Udo Koehler, Thomas Martin, Barbara Oehl-Jaschkowitz, Els Ortibus, Daniela T Pilz, Prab Prabhakar, Gudrun Rappold, Isabella Rau, Günther Rettenberger, Gregor Schlüter, Richard H Scott, Moonef Shoukier, Eva Wohlleber, Birgit Zirn, William B Dobyns, Gökhan Uyanik
Institutions: Heidelberg University, University Medical Center Hamburg-Eppendorf, Praxis für Humangenetik, Medical Genetics Center, Université Toulouse III - Paul Sabatier, Centre Hospitalier Universitaire de Toulouse, Hôpital Arnaud de Villeneuve, University of Chicago, University of Bonn, Universitair Ziekenhuis Leuven, KU Leuven, University of Tübingen, Centre Hospitalier Universitaire de Nantes, Université de Nantes, Nantes Université, Birmingham Women's Hospital, Birmingham Women’s and Children’s NHS Foundation Trust, Cardiff and Vale University Health Board, University Hospital of Wales, Great Ormond Street Hospital, Great Ormond Street Hospital for Children NHS Foundation Trust, Genetikum, University of Göttingen, Seattle Children's Hospital, Seattle Children's Research Institute
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: closed
Funder: National Institutes of Health
OpenAlex ID: W2128493759