Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis
Magini, Pamela; Smits, Daphne J.; Vandervore, Laura; Schot, Rachel; Columbaro, Marta; Kasteleijn, Esmee; van der Ent, Mees; Palombo, Flavia; Lequin, Maarten H.; Dremmen, Marjolein; de Wit, Marie Claire Y.; Severino, Mariasavina; Divizia, Maria Teresa; Striano, Pasquale; Ordonez-Herrera, Natalia; Alhashem, Amal; Al Fares, Ahmed; Al Ghamdi, Malak; Rolfs, Arndt; Bauer, Peter; Demmers, Jeroen; Verheijen, Frans W.; Wilke, Martina; van Slegtenhorst, Marjon; van der Spek, Peter J.; Seri, Marco; Jansen, Anna C.; Stottmann, Rolf W.; Hufnagel, Robert B.; Hopkin, Robert J.; Aljeaid, Deema; Wiszniewski, Wojciech; Gawlinski, Pawel; Laure-Kamionowska, Milena; Alkuraya, Fowzan S.; Akleh, Hanah; Stanley, Valentina; Musaev, Damir; Gleeson, Joseph G.; Zaki, Maha S.; Brunetti-Pierri, Nicola; Cappuccio, Gerarda; Davidov, Bella; Basel-Salmon, Lina; Bazak, Lily; Shahar, Noa Ruhrman; Avella, Aida Bertoli; Mirzaa, Ghayda M.; Dobyns, William B.; Pippucci, Tommaso; Fornerod, Maarten; Mancini, Grazia M.S.
- 期刊名称The American Journal of Human Genetics
- 作者Magini, Pamela; Smits, Daphne J.; Vandervore, Laura; Schot, Rachel; Columbaro, Marta; Kasteleijn, Esmee; van der Ent, Mees; Palombo, Flavia; Lequin, Maarten H.; Dremmen, Marjolein; de Wit, Marie Claire Y.; Severino, Mariasavina; Divizia, Maria Teresa; Striano, Pasquale; Ordonez-Herrera, Natalia; Alhashem, Amal; Al Fares, Ahmed; Al Ghamdi, Malak; Rolfs, Arndt; Bauer, Peter; Demmers, Jeroen; Verheijen, Frans W.; Wilke, Martina; van Slegtenhorst, Marjon; van der Spek, Peter J.; Seri, Marco; Jansen, Anna C.; Stottmann, Rolf W.; Hufnagel, Robert B.; Hopkin, Robert J.; Aljeaid, Deema; Wiszniewski, Wojciech; Gawlinski, Pawel; Laure-Kamionowska, Milena; Alkuraya, Fowzan S.; Akleh, Hanah; Stanley, Valentina; Musaev, Damir; Gleeson, Joseph G.; Zaki, Maha S.; Brunetti-Pierri, Nicola; Cappuccio, Gerarda; Davidov, Bella; Basel-Salmon, Lina; Bazak, Lily; Shahar, Noa Ruhrman; Avella, Aida Bertoli; Mirzaa, Ghayda M.; Dobyns, William B.; Pippucci, Tommaso; Fornerod, Maarten; Mancini, Grazia M.S.
- 印刷ISSN0002-9297
- 文件大小3196.68KB
- 发表时间2019-9
- DOI10.1016/j.ajhg.2019.08.006