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

Pamela Magini(IRCCS Azienda Ospedliero-Universitaria di Bologna Policlinico di Sant'Orsola), Daphne J. Smits(Erasmus MC), Laura Vandervore(Vrije Universiteit Brussel), Rachel Schot(Erasmus MC), Marta Columbaro(Istituto Ortopedico Rizzoli), Esmee Kasteleijn(Erasmus MC), Mees van der Ent(Erasmus MC), Flavia Palombo(Institute of Neurological Sciences), Maarten H. Lequin(University Medical Center Utrecht), Marjolein H. G. Dremmen(Erasmus MC), Marie‐Claire Y. de Wit(Erasmus MC), Mariasavina Severino(Istituto Giannina Gaslini), Maria Teresa Divizia(Istituto Giannina Gaslini), Pasquale Striano(Istituto Giannina Gaslini), Natalia Ordonez‐Herrera(Centogene (Germany)), Amal Alhashem(Riyadh Armed Forces Hospital), Ahmed Fares(Riyadh Armed Forces Hospital), Malak Al Ghamdi(King Saud University), Arndt Rolfs(Centogene (Germany)), Peter Bauer(Centogene (Germany)), Jeroen Demmers(Erasmus MC), Frans W. Verheijen(Erasmus MC), Martina Wilke(Erasmus MC), Marjon van Slegtenhorst(Erasmus MC), Peter J. van der Spek(Erasmus MC), Marco Seri(University of Bologna), Anna Jansen(Vrije Universiteit Brussel), Rolf W. Stottmann(Cincinnati Children's Hospital Medical Center), Robert B. Hufnagel(National Institutes of Health), Robert J. Hopkin(Cincinnati Children's Hospital Medical Center), Deema Aljeaid(King Abdulaziz University), Wojciech Wiszniewski(Oregon Health & Science University), Paweł Gawliński, Milena Laure‐Kamionowska(Mossakowski Medical Research Institute, Polish Academy of Sciences), Fowzan S. Alkuraya(King Faisal Specialist Hospital & Research Centre), Hanah Akleh(King Faisal Specialist Hospital & Research Centre), Valentina Stanley(Howard Hughes Medical Institute), Damir Musaev(Howard Hughes Medical Institute), Joseph G. Gleeson(Howard Hughes Medical Institute), Maha S. Zaki(National Research Centre), Nicola Brunetti‐Pierri(Telethon Institute Of Genetics And Medicine), Gerarda Cappuccio(Telethon Institute Of Genetics And Medicine), Bella Davidov(Rabin Medical Center), Lina Basel-Salmon(Tel Aviv University), Lily Bazak(Rabin Medical Center), Noa Ruhrman‐Shahar(Rabin Medical Center), Aida M. Bertoli‐Avella(Centogene (Germany)), Ghayda Mirzaa(Center for Infectious Disease Research), William B. Dobyns(University of Washington), Tommaso Pippucci(IRCCS Azienda Ospedliero-Universitaria di Bologna Policlinico di Sant'Orsola), Maarten Fornerod(Erasmus MC), Grazia M.S. Mancini(Erasmus MC)
The American Journal of Human Genetics
September 5, 2019
Cited by 85Open Access
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