31495489 |
Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis
Zaki, MS,
Dobyns, WB,
Lequin, MH,
Rolfs, A,
Gleeson, JG,
Jansen, AC,
Bazak, L,
Striano, P,
Alhashem, A,
Dremmen, M,
Mancini, GMS,
Mirzaa, GM,
Bauer, P,
Schot, R,
Kasteleijn, E,
Palombo, F,
Al Fares, A,
Davidov, B,
Fornerod, M,
Wilke, M,
Musaev, D,
Basel-Salmon, L,
Hopkin, RJ,
Stanley, V,
Magini, P,
Akleh, H,
Gawlinski, P,
Hufnagel, RB,
Vandervore, L,
van Slegtenhorst, M,
Cappuccio, G,
Pippucci, T,
Aljeaid, D,
Laure-Kamionowska, M,
de Wit, MCY,
van der Ent, M,
Alkuraya, FS,
Seri, M,
Ordonez-Herrera, N,
Bertoli-Avella, A,
Severino, M,
Al Ghamdi, M,
Smits, DJ,
Columbaro, M,
Brunetti-Pierri, N,
Demmers, J,
Shahar, NR,
Divizia, MT,
Verheijen, FW,
Stottmann, RW,
van der Spek, PJ,
Wiszniewski, W
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Am J Hum Genet |
2019 |