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

Class:IdLiteratureReference:9841229
_displayNameLoss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis
_timestamp2023-08-11 10:46:18
author[Person:9841195] Magini, Pamela
[Person:9841231] Smits, Daphne J
[Person:9841236] Vandervore, Laura
[Person:5229158] Schot, Rachel
[Person:9841228] Columbaro, Marta
[Person:9841215] Kasteleijn, Esmee
[Person:9841223] van der Ent, Mees
[Person:9841213] Palombo, Flavia
[Person:5229120] Lequin, Maarten H
[Person:9841200] Dremmen, Marjolein
[Person:9841222] de Wit, Marie Claire Y
[Person:9841216] Severino, Mariasavina
[Person:9841224] Divizia, Maria Teresa
[Person:9841205] Striano, Pasquale
[Person:9841218] Ordonez-Herrera, Natalia
[Person:9841203] Alhashem, Amal
[Person:9841210] Al Fares, Ahmed
[Person:9841217] Al Ghamdi, Malak
[Person:8877960] Rolfs, Arndt
[Person:5320313] Bauer, Peter
[Person:3662316] Demmers, Jeroen
[Person:5229096] Verheijen, Frans W
[Person:9841198] Wilke, Martina
[Person:9841237] van Slegtenhorst, Marjon
[Person:5229117] van der Spek, Peter J
[Person:9841221] Seri, Marco
[Person:9841206] Jansen, Anna C
[Person:5610290] Stottmann, Rolf W
[Person:9841239] Hufnagel, Robert B
[Person:9841197] Hopkin, Robert J
[Person:9841233] Aljeaid, Deema
[Person:9698144] Wiszniewski, Wojciech
[Person:9841238] Gawlinski, Pawel
[Person:9841241] Laure-Kamionowska, Milena
[Person:4839835] Alkuraya, Fowzan S
[Person:9841193] Akleh, Hanah
[Person:9841194] Stanley, Valentina
[Person:9841199] Musaev, Damir
[Person:3621805] Gleeson, Joseph G
[Person:5602220] Zaki, Maha S
[Person:195672] Brunetti-Pierri, N
[Person:9841234] Cappuccio, Gerarda
[Person:9841211] Davidov, Bella
[Person:9841196] Basel-Salmon, Lina
[Person:9841204] Bazak, Lily
[Person:9841227] Shahar, Noa Ruhrman
[Person:9841219] Bertoli-Avella, Aida
[Person:9841201] Mirzaa, Ghayda M
[Person:4420023] Dobyns, William B
[Person:9841235] Pippucci, Tommaso
[Person:5649765] Fornerod, Maarten
[Person:9817395] Mancini, Grazia M S
created[InstanceEdit:9841226] Stephan, Ralf, 2023-08-11
journalAm J Hum Genet
pages689-705
pubMedIdentifier31495489
titleLoss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis
volume105
year2019
(literatureReference)[Reaction:1606288] SMPD4 hydrolyzes sphingomyelin (ER membrane) [Homo sapiens]
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No pathways have been reviewed or authored by Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis (9841229)