Associated Papers
The Importance of a Multidisciplinary Team Approach in a Rare Case of Antenatally Diagnosed Tonne-Kalscheuer Syndrome.
Woody B et al.
Cureus, 2026
A novel missense variant at the site of interaction between RLIM and E2 ubiquitin-conjugating enzymes causes Tønne-Kalscheuer syndrome.
Siavrienė E et al.
Bmc Pediatrics, 2025
Extending the clinical spectrum of X-linked Tonne-Kalscheuer syndrome (TOKAS): new insights from the fetal perspective.
Cuinat S et al.
Journal of Medical Genetics, 2024
Sequential stabilization of RNF220 by RLIM and ZC4H2 during cerebellum development and Shh-group medulloblastoma progression.
Li Y et al.
Journal of Molecular Cell Biology, 2022
Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder.
Frints SGM et al.
Molecular Psychiatry, 2019
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