Bainbridge-Ropers Syndrome in a Texan Boy: A Case Report and Review of the Literature
Author:
Publisher
Cureus, Inc.
Subject
Aerospace Engineering
Reference12 articles.
1. 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;Balasubramanian M;J Med Genet,2017
2. ASXL3-Related Disorder;Balasubramanian M,1993
3. Bainbridge Ropers syndrome. (2021). Accessed. October 16, 2022: https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=352577.
4. Bainbridge-ropers syndrome caused by loss-of-function variants in ASXL3: clinical abnormalities, medical imaging features, and gene variation in infancy of case report;Yang L;BMC Pediatr,2020
5. De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome;Bainbridge MN;Genome Med,2013
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