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Article

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

American journal of human genetics - 1 Feb 2009

Parry David A, Mighell Alan J, El-Sayed Walid, Shore Roger C, Jalili Ismail K, Dollfus Hélène, Bloch-Zupan Agnes, Carlos Roman, Carr Ian M, Downey Louise M, Blain Katharine M, Mansfield David C, Shahrabi Mehdi, Heidari Mansour, Aref Parissa, Abbasi Mohsen, Michaelides Michel, Moore Anthony T, Kirkham Jennifer, Inglehearn Chris F

Abstract excerpt

The combination of recessively inherited cone-rod dystrophy (CRD) and amelogenesis imperfecta (AI) was first reported by Jalili and Smith in 1988 in a family subsequently linked to a locus on chromosome 2q11, and it has since been reported in a second small family. We have identified five further...

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Identifiers

PMID: 19200525
DOI: 10.1016/j.ajhg.2009.01.009
PMCID: PMC2668026

Genes

CNNM4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19200525-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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Mutations in CNNM4 cause Jalili syndrome, consisting of autosomal-recessive cone-rod dystrophy and amelogenesis imperfecta.PMID 19200525Read ↗

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Mutations in CNNM4 cause recessive cone-rod dystrophy with amelogenesis imperfecta.Semantic proximity Read ↗

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