Bainbridge-Ropers syndrome
Definition:
References:
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[1]. M Balasubramanian, et al. Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with de novo, heterozygous, loss-of-function mutations in ASXL3 and review of published literature. J Med Genet. 2017 Aug;54(8):537-543. [Content Brief]
[2]. Matthew N Bainbridge, et al. De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome. Genome Med. 2013 Feb 5;5(2):11. [Content Brief]
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