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Article

Joubert syndrome: a haplotype segregation strategy and exclusion of the zinc finger protein of cerebellum 1 (ZIC1) gene.

American journal of medical genetics. Part A - 1 Mar 2004

Bennett Craig L, Parisi Melissa A, Eckert Melissa L, Huynh Huy M, Chance Phillip F, Glass Ian A

Abstract excerpt

Joubert syndrome (JS) is a rare autosomal recessive malformation syndrome, involving dysgenesis of the cerebellar vermis with accompanying brainstem malformations (comprising the molar tooth sign). JS is characterized by hypotonia, developmental delay, intermittent hyperpnea and apnea, and abnormal eye movements. A single locus for JS was previously identified on 9q34 in a consanguineous family of Arabian origin....

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Source

Identifiers

PMID: 14981711
DOI: 10.1002/ajmg.a.20438

Genes

ZIC1

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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Joubert syndrome: a haplotype segregation strategy and exclusion of the zinc finger protein of cerebellum 1 (ZIC1) gene.PMID 14981711Read ↗

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Search for genes involved in Joubert syndrome: evidence that one or more major loci are yet to be identified and exclusion of candidate genes EN1, EN2, FGF8, and BARHL1.Semantic proximity Read ↗

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Gain-of-Function Mutations in ZIC1 Are Associated with Coronal Craniosynostosis and Learning Disability.Semantic proximity Read ↗

Novel biallelic loss-of-function variants in CEP290 cause Joubert syndrome in two siblings.Semantic proximity Read ↗

FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation.Semantic proximity Read ↗

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Dandy-Walker malformation and Wisconsin syndrome: novel cases add further insight into the genotype-phenotype correlations of 3q23q25 deletions.Semantic proximity Read ↗

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