ASXL – Bohring-Opitz Syndrome

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ASXL Conference – registration now open

By: Sünne June 13, 2018April 12, 2019

New#ASpire2XL, ARRE Foundation, ASXL, ASXL1, ASXLConferenceLeave a Comment

More information about the first Research Symposium about all ASXL Families you can find on the website of the AЯRE Foundation. Register here:

Phenotypic spectrum of BRS – new study

By: Sünne January 24, 2017April 12, 2019

NewASXL, rare diseaseLeave a Comment

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…

BRS is distinguishable from BOS

By: Sünne January 15, 2017April 12, 2019

NewASXL, ASXL3, Bainbridge-Ropers, BRSLeave a Comment

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 Now Alma Kuechler and colleguas report six previously unpublished patients with newly diagnosed heterozygous de novo loss-of-function variants in ASXL3.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…