BMC pediatrics
A novel missense variant at the site of interaction between RLIM and E2 ubiquitin-conjugating enzymes causes Tønne-Kalscheuer syndrome.
Evelina Siavrienė, Justas Dapkūnas, Živilė Maldžienė, Violeta Mikštienė, Gunda Petraitytė, Eglė Preikšaitienė
Published: 202510.1186/s12887-025-06194-3
No abstract available for this study.