Novel variants in FOXI3 gene confirm its implication in Oculo-Auriculo-Vertebral spectrum.
FOXI3 基因的新变异证实了其与眼耳脊椎谱系疾病的关系
期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/s41431-025-01837-6
Sequeira Angèle, Sagardoy Thomas, Bourgeade Laetitia, Lacombe Didier, Sarrazin Elizabeth, Toutain Annick, Rooryck Caroline