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Article

Neuroimaging findings in Joubert syndrome with C5orf42 gene mutations: A milder form of molar tooth sign and vermian hypoplasia.

Journal of the neurological sciences - 15 May 2017

Enokizono Mikako, Aida Noriko, Niwa Tetsu, Osaka Hitoshi, Naruto Takuya, Kurosawa Kenji, Ohba Chihiro, Suzuki Toshifumi, Saitsu Hirotomo, Goto Tomohide, Matsumoto Naomichi

Abstract excerpt

PURPOSE: Little is known regarding neuroimaging-genotype correlations in Joubert syndrome (JBTS). To elucidate one of these correlations, we investigated the neuroimaging findings of JBTS patients with C5orf42 mutations. MATERIALS AND METHODS: Neuroimaging findings in five JBTS patients with C5orf42 mutations were retrospectively assessed with regard to the infratentorial and supratentorial structures on...

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Source

Identifiers

PMID: 28431631
DOI: 10.1016/j.jns.2017.02.065

Genes

AHI1
TMEM67

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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