Novel compound heterozygous variant of BSCL2 identified by whole exome sequencing and multiplex ligation‑dependent probe amplification in an infant with congenital generalized lipodystrophy
Bobo Xie(Guangxi Maternal and Child Health Hospital), Yiping Shen(Zhejiang Chinese Medical University), Qi Yang(Hebei Agricultural University), Jingsi Luo(Guangxi Maternal and Child Health Hospital), Jin Wang(Tangshan Gongren Hospital), Xin Fan(Guangxi Medical University), Shang Yi(Guangxi Maternal and Child Health Hospital), Yaqin Lei(Guangxi Maternal and Child Health Hospital), Fei Shen(Guangxi Maternal and Child Health Hospital), Zailong Qin(Guangxi Maternal and Child Health Hospital)
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