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Article

A novel missense variant at the site of interaction between RLIM and E2 ubiquitin-conjugating enzymes causes Tønne-Kalscheuer syndrome.

BMC pediatrics - 9 Oct 2025

Siavrienė Evelina, Dapkūnas Justas, Maldžienė Živilė, Mikštienė Violeta, Petraitytė Gunda, Preikšaitienė Eglė

Abstract excerpt

Hemizygous variants in the RLIM gene, which is located on chromosome Xq13, cause Tønne-Kalscheuer syndrome (TOKAS). This X-linked recessive disorder is characterized by intellectual disability (ID), global developmental delay, behavioral impairment, gait disturbances, minor facial anomalies, congenital diaphragmatic hernia, skeletal and urogenital abnormalities, including hypogenitalism, micropenis, and...

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Identifiers

PMID: 41068697
DOI: 10.1186/s12887-025-06194-3
PMCID: PMC12512490

Genes

RLIM

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A novel missense variant at the site of interaction between RLIM and E2 ubiquitin-conjugating enzymes causes Tønne-Kalscheuer syndrome.PMID 41068697Read ↗

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