Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis
Year: 2019
Type: article
Study design: Observational Study
Authors: Pamela Magini, Daphne J. Smits, Laura Vandervore, Rachel Schot, Marta Columbaro, Esmee Kasteleijn, Mees van der Ent, Flavia Palombo, Maarten H. Lequin, Marjolein Dremmen, Marie Claire Y. de Wit, Mariasavina Severino, Maria Teresa Divizia, Pasquale Striano, Natalia Ordonez-Herrera, Amal Alhashem, Ahmed Al Fares, Malak Al Ghamdi, Arndt Rolfs, Peter Bauer, Jeroen Demmers, Frans W. Verheijen, Martina Wilke, Marjon van Slegtenhorst, Peter J. van der Spek, Marco Seri, Anna C. Jansen, Rolf W. Stottmann, Robert B. Hufnagel, Robert J. Hopkin, Deema Aljeaid, Wojciech Wiszniewski, Pawel Gawlinski, Milena Laure-Kamionowska, Fowzan S. Alkuraya, Hanah Akleh, Valentina Stanley, Damir Musaev, Joseph G. Gleeson, Maha S. Zaki, Nicola Brunetti-Pierri, Gerarda Cappuccio, Bella Davidov, Lina Basel-Salmon, Lily Bazak, Noa Ruhrman Shahar, Aida Bertoli-Avella, Ghayda M. Mirzaa, William B. Dobyns, Tommaso Pippucci, Maarten Fornerod, Grazia M.S. Mancini
Institutions: IRCCS Azienda Ospedliero-Universitaria di Bologna Policlinico di Sant'Orsola, Erasmus MC, Vrije Universiteit Brussel, Istituto Ortopedico Rizzoli, Ospedale Bellaria, University Medical Center Utrecht, Erasmus MC - Sophia Children’s Hospital, Istituto Giannina Gaslini, University of Genoa, Centogene (Germany), Riyadh Armed Forces Hospital, Qassim University, King Saud University, University of Bologna, Universitair Ziekenhuis Brussel, Cincinnati Children's Hospital Medical Center, National Institutes of Health, National Eye Institute, University of Cincinnati, King Abdulaziz University, Oregon Health & Science University, Instytut Matki i Dziecka, Mossakowski Medical Research Institute, Polish Academy of Sciences, Polish Academy of Sciences, King Faisal Specialist Hospital & Research Centre, Howard Hughes Medical Institute, University of California San Diego, National Research Centre, Telethon Institute Of Genetics And Medicine, University of Naples Federico II, Rabin Medical Center, Tel Aviv University, University of Washington, Seattle Children's Research Institute
Language: English
Subfield: Molecular Biology
Domain: Life Sciences
Open Access status: bronze
Awards: G1609525565, Large Scale Sequencing and Analysis of Genomes, G2795716607, G4302627264, Genes and pathways underlying brain overgrowth and focal cortical malformations, G5133234579, G5220200369, The Genetic Basis of Dandy-Walker and Other Mid-Hindbrain Malformations, G6522787788, Forward Genetic Analysis of Congenital Defects in Cortical Circuits and Structure, G770899802
OpenAlex ID: W2971362908