Ontology highlight
ABSTRACT:
SUBMITTER: Giri D
PROVIDER: S-EPMC5544984 | biostudies-literature | 2017
REPOSITORIES: biostudies-literature
Giri Dinesh D Rigden Daniel D Didi Mohammed M Peak Matthew M McNamara Paul P Senniappan Senthil S
International journal of pediatric endocrinology 20170804
<h4>Background</h4>De novo truncating and splicing mutations in the additional sex combs-like 3 (<i>ASXL3</i>) gene have been implicated in the development of Bainbridge-Ropers syndrome (BRPS) characterised by severe developmental delay, feeding problems, short stature and characteristic facial features.<h4>Case presentation</h4>We describe, for the first time, a patient with severe short stature, learning difficulties, feeding difficulties and dysmorphic features with a novel compound heterozyg ...[more]