Article
YIF1B mutations cause a post-natal neurodevelopmental syndrome associated with Golgi and primary cilium alterations.
Brain : a journal of neurology - 1 Oct 2020
Diaz Jorge, Gérard Xavier, Emerit Michel-Boris, Areias Julie, Geny David, Dégardin Julie, Simonutti Manuel, Guerquin Marie-Justine, Collin Thibault, Viollet Cécile, Billard Jean-Marie, Métin Christine, Hubert Laurence, Larti Farzaneh, Kahrizi Kimia, Jobling Rebekah, Agolini Emanuele, Shaheen Ranad, Zigler Alban, Rouiller-Fabre Virginie, Rozet Jean-Michel, Picaud Serge, Novelli Antonio, Alameer Seham, Najmabadi Hossein, Cohn Ronald, Munnich Arnold, Barth Magalie, Lugli Licia, Alkuraya Fowzan S, Blaser Susan, Gashlan Maha, Besmond Claude, Darmon Michèle, Masson Justine
Abstract excerpt
Human post-natal neurodevelopmental delay is often associated with cerebral alterations that can lead, by themselves or associated with peripheral deficits, to premature death. Here, we report the clinical features of 10 patients from six independent families with mutations in the autosomal YIF1B gene encoding a ubiquitous protein involved in anterograde traffic from the endoplasmic reticulum to the cell...
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