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Article

Dentofacial manifestations in a child with Jalili syndrome.

Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry - 1 Jan 2024

Ravi Mugilan, Karthikeyan Pavithra Devi, Tewari Nitesh, Morankar Rahul, Gupta Amit Kumar, Nehta Hemlata, Raghuthaman Sruthila

Abstract excerpt

Jalili syndrome (JS) (MIM#217080) is a rare autosomal recessive disorder with oculo-dental malformations. The clinical phenotype is characterized by the presence of Cone-Rod Dystrophy (CRD) and Amelogenesis Imperfecta (AI). Genetic mechanism entails a mutation in the CNNM4, a metal transporter gene located on Chromosome 2q11.2. A high fluoride concentration in groundwater has also been identified as an epigenetic...

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Identifiers

PMID: 38151709
DOI: 10.1111/scd.12953

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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