AP1S2 is mutated in X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome)
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Auteurs | Cacciagli P, Desvignes JP, Girard N, Delepine M, Zelenika D, Lathrop M, Levy N, Ledbetter DH, Dobyns WB and Villard L |
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Année | 2,014 |
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Institut | IG |
url DOI | 10.1038/ejhg.2013.135 |