Original paper
Bainbridge–Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition
Abstract
Truncating ASXL3 mutations were first identified in 2013 by Bainbridge et al. as a cause of syndromic intellectual disability in four children with similar phenotypes using whole-exome sequencing. The clinical features – postulated by Bainbridge et al. to be overlapping with Bohring–Opitz syndrome – were developmental delay, severe feeding difficulties, failure to thrive and neurological abnormalities. This condition was included in OMIM as...
Paper Details
Title
Bainbridge–Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition
Published Date
Nov 30, 2016
Volume
25
Issue
2
Pages
183 - 191
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Notes
History