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

Pierre Cacciagli; Jean-Pierre Desvignes; Nadine Girard; Marc Délépine; Diana Zelenika; Mark Lathrop; Nicolas Lévy; David H Ledbetter; William B Dobyns; Laurent Villard

doi:10.1038/ejhg.2013.135

Journal articles

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

Document type :

Journal articles

Domain :

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]

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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

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

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

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