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Article

Cerebellar vermis aplasia: patient report and exclusion of the candidate genes EN2 and ZIC1.

American journal of medical genetics. Part A - 15 Jul 2005

Titomanlio Luigi, Pierri Nicola Brunetti, Romano Alfonso, Imperati Floriana, Borrelli Melissa, Barletta Valentina, Diano Alvaro Antonio, Castaldo Imma, Santoro Lucio, Del Giudice Ennio

Abstract excerpt

Cerebellar vermis aplasia (ACV, OMIM 117360) is a rare malformation of the cerebellum, with only few familial patients reported so far. Main clinical features of this rare disorder include floppiness and delayed milestones in early infancy, preceding mild cerebellar ataxia, non-progressive clinical course, normal or slightly delayed intelligence, and occasional nystagmus. Neuroimaging reveals selective...

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Source

Identifiers

PMID: 15940696
DOI: 10.1002/ajmg.a.30795

Genes

ZIC1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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