Open AccessNovel compound heterozygous variant of BSCL2 identified by whole exome sequencing and multiplex ligation‑dependent probe amplification in an infant with congenital generalized lipodystrophy
Author(s) -
Bobo Xie,
Xin Fan,
Yaqin Lei,
Yue Shang,
Qi Yang,
Jin Wang,
Zailong Qin,
Fei Shen,
Jingsi Luo,
Yiping Shen
Publication year - 2020
Publication title -
molecular medicine reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.727
H-Index - 56
eISSN - 1791-3004
pISSN - 1791-2997
DOI - 10.3892/mmr.2020.11036
Subject(s) - biology , genetics , exon , exome sequencing , compound heterozygosity , multiplex ligation dependent probe amplification , population , exome , skin hyperpigmentation , mutation , gene , medicine , hyperpigmentation , environmental health