A novel missense variant at the site of interaction between RLIM and E2 ubiquitin-conjugating enzymes causes Tønne-Kalscheuer syndrome
BMC Pediatr. 2025 Oct 9;25(1):797. doi: 10.1186/s12887-025-06194-3. NO ABSTRACT PMID:41068697 | DOI:10.1186/s12887-025-06194-3