A Patient with Berardinelli-Seip Syndrome, Novel AGPAT2 Splicesite Mutation and Concomitant Development of Non-diabetic Polyneuropathy
一名患有贝拉迪内利-塞普综合征、新型AGPAT2剪接位点突变并伴有非糖尿病性多发性神经病的患者
期刊:Journal of Clinical Research in Pediatric Endocrinology
影响因子:1.5
doi:10.4274/jcrpe.galenos.2018.2018.0227
Oswiecimska, Joanna; Dawidziuk, Mateusz; Gambin, Tomasz; Ziora, Katarzyna; Marek, Marta; Rzonca, Sylwia; Guilbride, D Lys; Jhangiani, Shalini N; Obuchowicz, Anna; Sikora, Alicja; Lupski, James R; Wiszniewski, Wojciech; Gawlinski, Pawel