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Article

New missense variants in RELT causing hypomineralised amelogenesis imperfecta.

Clinical genetics - 1 May 2020

Nikolopoulos Georgios, Smith Claire E L, Brookes Steven J, El-Asrag Mohammed E, Brown Catriona J, Patel Anesha, Murillo Gina, O'Connell Mary J, Inglehearn Chris F, Mighell Alan J

Abstract excerpt

Amelogenesis imperfecta (AI) is a heterogeneous group of genetic diseases characterised by dental enamel malformation. Pathogenic variants in at least 33 genes cause syndromic or non-syndromic AI. Recently variants in RELT, encoding an orphan receptor in the tumour necrosis factor (TNF) superfamily, were found to cause recessive AI, as part of a syndrome encompassing small stature and severe childhood infections....

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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: 32052416
DOI: 10.1111/cge.13721
PMCID: PMC7216828

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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