Associated Papers
Heterozygous variants in the DVL2 interaction region of DACT1 cause CAKUT and features of Townes-Brocks syndrome 2.
Christians A et al.
Human Genetics, 2023
36066768 (PubMed )
Supplement: 439_2022_2481_MOESM2_ESM.xlsx › Supplementary_Table_5
NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development.
Baetens D et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
27490115 (PubMed )
Supplement: gim2016118x1.zip › Table_S13-S17.xlsx › Table_S15
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