Bainbridge-ropers syndrome caused by loss-of-function variants in ASXL3: Clinical abnormalities, medical imaging features, and gene variation in infancy of case report

• Päätekijät: Linfeng Yang (Tekijä), Bin Guo (Tekijä), Weiwei Zhu (Tekijä), Lei Wang (Tekijä), Bingjuan Han (Tekijä), Yena Che (Tekijä), Lingfei Guo (Tekijä)
• Aineistotyyppi: Kirja
• Julkaistu: BMC, 2020-06-01T00:00:00Z.
• Aiheet: article
• Linkit: Connect to this object online.

Abstract 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, medi...