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Article

Cone-rod dystrophy and amelogenesis imperfecta (Jalili syndrome): phenotypes and environs.

Eye (London, England) - 1 Nov 2010

Jalili I K

Abstract excerpt

PURPOSE: To report a new phenotype with additional data on the oculo-dental syndrome of cone-rod dystrophy (CRD) and amelogenesis imperfecta (AI) caused by mutations on CNNM4, a metal transporter, with linkage at achromatopsia locus 2q11 (Jalili syndrome). METHODS: Three siblings aged 5, 6, and 1...

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Source

Identifiers

PMID: 20706282
DOI: 10.1038/eye.2010.103

Genes

CNNM4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20706282-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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Cone-rod dystrophy and amelogenesis imperfecta (Jalili syndrome): phenotypes and environs.PMID 20706282Read ↗

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