Article
Bainbridge-ropers syndrome caused by loss-of-function variants in ASXL3: Clinical abnormalities, medical imaging features, and gene variation in infancy of case report.
BMC pediatrics - 9 Jun 2020
Yang Linfeng, Guo Bin, Zhu Weiwei, Wang Lei, Han Bingjuan, Che Yena, Guo Lingfei
Abstract excerpt
BACKGROUND: Bainbridge-Ropers syndrome (BRPS) is a recently described developmental disorder caused by de novo truncating mutations in the Additional sex combs-like 3 (ASXL3) gene. Only four cases have been reported in China and are limited to the analysis of its clinical abnormalities, medical imaging features and gene variation. The aim of this study was to investigate the clinical phenotype, imaging...
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