A Japanese boy with Bardet-Biedl syndrome caused by a novel homozygous variant in the ARL6 gene who was initially diagnosed with retinitis punctata albescens: A case report
一例因ARL6基因新型纯合变异导致Bardet-Biedl综合征的日本男孩,最初被诊断为点状白斑性视网膜炎:病例报告
期刊:Medicine
影响因子:1.4
doi:10.1097/MD.0000000000032161
Mizumoto, Keitaro; Kato, Kumiko; Fujinami, Kaoru; Sugita, Tadasu; Sugita, Iichiro; Hattori, Ayako; Saitoh, Shinji; Ueno, Shinji; Tsunoda, Kazushige; Iwata, Takeshi; Kondo, Mineo