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Article

Mutations in CNNM4 cause recessive cone-rod dystrophy with amelogenesis imperfecta.

American journal of human genetics - 1 Feb 2009

Polok Bozena, Escher Pascal, Ambresin Aude, Chouery Eliane, Bolay Sylvain, Meunier Isabelle, Nan Francis, Hamel Christian, Munier Francis L, Thilo Bernard, Mégarbané André, Schorderet Daniel F

Abstract excerpt

Cone-rod dystrophies are inherited dystrophies of the retina characterized by the accumulation of deposits mainly localized to the cone-rich macular region of the eye. Dystrophy can be limited to the retina or be part of a syndrome. Unlike nonsyndromic cone-rod dystrophies, syndromic cone-rod dys...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 19200527
DOI: 10.1016/j.ajhg.2009.01.006
PMCID: PMC2668018

Genes

CNNM4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19200527-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutations in CNNM4 cause recessive cone-rod dystrophy with amelogenesis imperfecta.PMID 19200527Read ↗

Jalili Syndrome: A new pathogenic mutation of CNNM4 geneSemantic proximity Read ↗

Mutations in CNNM4 cause Jalili syndrome, consisting of autosomal-recessive cone-rod dystrophy and amelogenesis imperfecta.Semantic proximity Read ↗

A novel mutation and variable phenotypic expression in a large consanguineous pedigree with Jalili syndrome.Semantic proximity Read ↗

Identification of a mutation in CNNM4 by whole exome sequencing in an Amish family and functional link between CNNM4 and IQCB1.Semantic proximity Read ↗

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

Expanding the genotypic spectrum of Jalili syndrome: Novel CNNM4 variants and uniparental isodisomy in a north American patient cohort.Semantic proximity Read ↗

Jalili Syndrome: Cross-sectional and Longitudinal Features of Seven Patients With Cone-Rod Dystrophy and Amelogenesis Imperfecta.Semantic proximity Read ↗

A novel mutation in CNNM4 is associated with a case of Jalili syndrome in Egypt.Semantic proximity Read ↗

NMNAT1 variants cause cone and cone-rod dystrophySemantic proximity Read ↗

Novel splice site mutation in CNNM4 gene in a family with Jalili syndrome.Semantic proximity Read ↗

LRRTM4-C538Y novel gene mutation is associated with hereditary macular degeneration with novel dysfunction of ON-type bipolar cells.Semantic proximity Read ↗

Biallelic variants in TTLL5, encoding a tubulin glutamylase, cause retinal dystrophy.Semantic proximity Read ↗

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