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

Domains: Life Sciences [q-bio]; Life Sciences [q-bio]; Genetics; Life Sciences [q-bio]; Human health and pathology; Life Sciences [q-bio]; Neurons and Cognition [q-bio.NC]

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, 2013, 22 (3), pp.363 - 368. ⟨10.1038/ejhg.2013.135⟩. ⟨hal-01668667⟩