A case of Baraitser-Winter cerebrofrontofacial syndrome diagnosed by whole-exome sequencing
通过全外显子组测序诊断的一例巴雷特瑟-温特脑额面综合征病例
期刊:Human Genome Variation
影响因子:1.3
doi:10.1038/s41439-025-00319-x
Suga, Kenichi; Sato, Hiroki; Suzue, Masashi; Honma, Yukako; Hayabuchi, Yasunobu; Nakagawa, Ryuji; Shinomiya, Kayo; Okamoto, Nobuhiko; Inoue, Yuta; Tsuchida, Naomi; Matsumoto, Naomichi; Morino, Hiroyuki; Izumi, Yuishin; Urushihara, Maki