Bi-allelic Variants in RALGAPA1 Cause Profound Neurodevelopmental Disability, Muscular Hypotonia, Infantile Spasms, and Feeding Abnormalities
Year: 2020
Type: article
Study design: Case Report
Authors: Matias Wagner, Yuliya Skorobogatko, Ben Pode-Shakked, Cynthia M. Powell, Bader Alhaddad, Annette Seibt, Ortal Barel, Gali Heimer, Chen Hoffmann, Laurie A. Demmer, Yezmin Perilla-Young, Marc Remke, Dagmar Wieczorek, Tharsini Navaratnarajah, Peter Lichtner, Dirk Klee, Hanan E. Shamseldin, Fuad Al Mutairi, Ertan Mayatepek, Tim Strom, Thomas Meitinger, Fowzan S. Alkuraya, Yair Anikster, Alan R. Saltiel, Felix Distelmaier
Institutions: Helmholtz Munich, Institut für Humangenetik, Technical University of Munich, University of California San Diego, Tel Aviv University, Sheba Medical Center, Edmond and Lily Safra Children's Hospital, University of North Carolina at Chapel Hill, Heinrich Heine University Düsseldorf, Levine Children's Hospital, Düsseldorf University Hospital, King Faisal Specialist Hospital & Research Centre, King Saud bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: bronze
Funder: Deutsche Forschungsgemeinschaft
OpenAlex ID: W3004341876