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Hox gene
Phenotypic spectrum of BRS – new study
In this study Dr Meena Balasubramanian present 12 new patients with de novo, heterozygous, loss-of function mutations in ASXL3 and review the to date published literature. Together with the recently published six patients of Kuechler et al. there are now 27 published cases of Bainbridge-Ropers Syndrome (BRS/BRPS). The patients, identified by the Deciphering Developmental Disorders…
Read MoreBRS 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 Now Alma Kuechler and colleguas report six previously unpublished patients with newly diagnosed heterozygous de novo loss-of-function variants in ASXL3.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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