Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis

Pamela Magini(Azienda USL di Bologna), Tommaso Pippucci(University of Bologna), Ahmed Fares(Riyadh Armed Forces Hospital), Milena Laure‐Kamionowska(Mossakowski Medical Research Institute, Polish Academy of Sciences), Robert J. Hopkin(Cincinnati Children's Hospital Medical Center), Joseph G. Gleeson(Children’s Institute), Maha S. Zaki(National Water Research Center), Anna Jansen(Vrije Universiteit Brussel), Wojciech Wiszniewski, Rachel Schot(Erasmus MC), Mees van der Ent(Erasmus MC), Laura Vandervore(Erasmus MC), Amal Alhashem(Riyadh Armed Forces Hospital), Marta Columbaro(National Research Council), Gerarda Cappuccio(Telethon Institute Of Genetics And Medicine), Maarten H. Lequin(McDonald's (United States)), Hanah Akleh(King Faisal Specialist Hospital & Research Centre), Martina Wilke(Erasmus MC), William B. Dobyns(University of Minnesota), Marjon van Slegtenhorst(Erasmus MC), Mariasavina Severino(Istituto Giannina Gaslini), Marco Seri(University of Bologna), Flavia Palombo(Institute of Neurological Sciences), Marjolein H. G. Dremmen(Erasmus MC), Peter J. van der Spek(Erasmus MC), Jeroen Demmers(Erasmus MC), Rolf W. Stottmann(Nationwide Children's Hospital), Nicola Brunetti‐Pierri(Federico II University Hospital), Paweł Gawliński(Mother and Child Foundation), Deema Aljeaid(King Abdulaziz University), Lily Bazak(Rafael Advanced Defense Systems (Israel)), Natalia Ordonez‐Herrera(Centogene (Germany)), Aida M. Bertoli‐Avella(Centogene (Germany)), Noa Ruhrman‐Shahar(Rabin Medical Center), Fowzan S. Alkuraya(Alfaisal University), Peter Bauer(Centogene (Germany)), Bella Davidov(Rabin Medical Center), Pasquale Striano(Great Ormond Street Hospital), Marie‐Claire Y. de Wit(Erasmus MC), Daphne J. Smits(Erasmus MC), Maria Teresa Divizia(Istituto Giannina Gaslini), Robert B. Hufnagel(National Institutes of Health), Ghayda Mirzaa(University of Washington), Arndt Rolfs(Population Health Research Institute), Frans W. Verheijen(Erasmus MC), Malak Al Ghamdi(King Saud University), Esmee Kasteleijn(Erasmus MC), Valentina Stanley(Children’s Institute), Damir Musaev(Yale University)
The American Journal of Human Genetics
September 5, 2019
Cited by 85


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