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Article

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

European journal of human genetics : EJHG - 1 Mar 2014

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

Abstract excerpt

MRXS5 or Pettigrew syndrome was described 20 years ago in a four generation family including nine affected individuals presenting with facial dysmorphism, intellectual disability, Dandy-Walker malformation and inconstant choreoathetosis. Four individuals had iron deposition in the basal ganglia seen on MRI or at autopsy. The mutation causing Pettigrew has remained elusive since the initial description of the...

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Identifiers

PMID: 23756445
DOI: 10.1038/ejhg.2013.135
PMCID: PMC3925263

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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