BRS is distinguishable from BOS

Given the rarity and the phenotypical overlap, Bainbridge-Ropers Syndrome (BRS/BRPS) is associated with Bohring-Opitz Syndrome (BOS/BOPS). Now Alma Kuechler and colleguas report six previously unpublished patients with newly diagnosed heterozygous de novo loss-of-function variants in ASXL3. (Bainbridge–Ropers syndrome caused by loss-offunction variants in ASXL3: a recognizable condition) These new cases, together with the nine patients…

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