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Article

RLIM-specific activity reporters define variant pathogenicity in Tonne-Kalscheuer syndrome.

HGG advances - 9 Jan 2025

Bandi Venkateshwarlu, Rennie Martin, Koch Intisar, Gill Polly, Pacheco Oscar D, Berg Aaron D, Cui Hong, Ward D Isum, Bustos Francisco

Abstract excerpt

Tonne-Kalscheuer syndrome (TOKAS; MIM: 300978) is an X-linked recessive disorder with devastating consequences for patients, such as intellectual disability, developmental delay, and multiple congenital abnormalities. TOKAS is associated with hemizygous variants in the RLIM gene, which encodes a RING-type E3 ubiquitin ligase. The current sustained increase in reported RLIM variants of uncertain significance...

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Identifiers

PMID: 39482882
DOI: 10.1016/j.xhgg.2024.100378
PMCID: PMC11617870

Genes

RLIM

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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