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AP1S2 is mutated in X-linked Dandy–Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome)

Pierre Cacciagli 1 Jean-Pierre Desvignes 1 Nadine Girard 2 Marc Délépine 3 Diana Zelenika 4 Mark Lathrop 4 Nicolas Lévy 1 David H Ledbetter 5 William B Dobyns Laurent Villard 1 
1 GMGF - Génétique Médicale et Génomique Fonctionnelle
2 TIMONE - Hôpital de la Timone [CHU - APHM]
3 CEA - Commissariat à l'énergie atomique et aux énergies alternatives
4 CNG - Centre National de Génotypage
5 Developmental Brain and Behaviour Unit
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https://hal-amu.archives-ouvertes.fr/hal-01668667
Contributor : Laurent Villard Connect in order to contact the contributor
Submitted on : Wednesday, December 20, 2017 - 11:02:19 AM
Last modification on : Saturday, June 25, 2022 - 8:28:20 PM

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Pierre Cacciagli, Jean-Pierre Desvignes, Nadine Girard, Marc Délépine, Diana Zelenika, et al.. AP1S2 is mutated in X-linked Dandy–Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome). European Journal of Human Genetics, Nature Publishing Group, 2013, 22 (3), pp.363 - 368. ⟨10.1038/ejhg.2013.135⟩. ⟨hal-01668667⟩

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