Clinical, genetic profile and therapy evaluation of 11 Chinese pediatric patients with Fanconi-Bickel syndrome

被引：0
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作者：
Taozi Du
Yu Xia
Chengkai Sun
Zhuwen Gong
Lili Liang
Zizhen Gong
Ruifang Wang
Deyun Lu
Kaichuang Zhang
Yi Yang
Yuning Sun
Manqing Sun
Yu Sun
Bing Xiao
Wenjuan Qiu
机构：
[1] Shanghai Jiao Tong University,Department of Pediatric Endocrinology and Genetic Metabolism, Xinhua Hospital, Shanghai Institute of Pediatric Research, School of Medicine
[2] Shanghai Jiao Tong University,Department of Clinical Genetics Centre, Xinhua Hospital, School of Medicine
来源：
Orphanet Journal of Rare Diseases | / 19卷
关键词：
Fanconi-Bickel syndrome; Glucose transporter protein 2; Variant; Regions of homozygosity;
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