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Article

Dandy-Walker malformation associated with heterozygous ZIC1 and ZIC4 deletion: Report of a new patient.

American journal of medical genetics. Part A - 1 Jan 2011

Tohyama Jun, Kato Mitsuhiro, Kawasaki Sari, Harada Naoki, Kawara Hiroki, Matsui Takeshi, Akasaka Noriyuki, Ohashi Tsukasa, Kobayashi Yu, Matsumoto Naomichi

Abstract excerpt

We report on a female patient with Dandy-Walker malformation possibly caused by heterozygous loss of ZIC1 and ZIC4. The patient presented with mental retardation, epilepsy, and multiple congenital malformations including spina bifida, mild dysmorphic facial features including, thick eyebrows, broad nose, full lips, macroglossia, and hypoplasia of the cerebellar vermis with enlargement of the fourth ventricle on...

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Share to Chromosome Deletion
Share to Chromosomes, Human, Pair 3

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 21204220
DOI: 10.1002/ajmg.a.33652

Genes

ZIC1
ZIC4
FOXL2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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