Townes-Brocks syndrome: genotype-phenotype correlations of SALL1 variants in our series and the literature
Townes-Brocks综合征：我们病例系列及文献中SALL1变异的基因型-表型相关性
期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/s41431-025-01855-4
Leduc, Fiona; Brunelle, Perrine; Escande, Fabienne; Ramdane, Nassima; Bellengier, Laurence; Giacomello, Léa; Lefevre, Christine; Mezel, Aurélie; Samaille, Charlotte; Sfeir, Rony; Toulemonde, Philippine; Manouvrier-Hanu, Sylvie; Vincent-Delorme, Catherine; Petit, Florence; Vanlerberghe, Clémence
