Associated Papers
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
Rare damaging variants in the sex differences of congenital heart disease: an exome sequencing study.
Sun H et al.
Ebiomedicine, 2025
40347836 (PubMed )
Supplement: mmc2.xlsx › Supplementary_Table_6
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
Genetic abnormalities in fetal congenital heart disease with aberrant right subclavian artery.
Sun H et al.
Scientific Reports, 2022
36151134 (PubMed )
Supplement: 41598_2022_20037_MOESM1_ESM.xlsx › Supplementary_table_1
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