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Article

Dental phenotype in Jalili syndrome due to a c.1312 dupC homozygous mutation in the CNNM4 gene.

PloS one - 1 Jan 2013

Luder Hans U, Gerth-Kahlert Christina, Ostertag-Benzinger Silke, Schorderet Daniel F

Abstract excerpt

Jalili syndrome denotes a recessively inherited combination of an eye disease (cone-rod dystrophy) and a dental disorder (amelogenesis imperfecta), which is caused by mutations in the CNNM4 gene. Whereas the ophthalmic consequences of these mutations have been studied comprehensively, the dental phenotype has obtained less attention. A defective transport of magnesium ions by the photoreceptors of the retina is...

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Identifiers

PMID: 24194943
DOI: 10.1371/journal.pone.0078529
PMCID: PMC3806830

Genes

CNNM4

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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