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

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...

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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.
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