Comorbid Psychiatric Aspects of Bainbridge-Ropers Syndrome
نویسندگان
چکیده
منابع مشابه
Hyperventilation-athetosis in ASXL3 deficiency (Bainbridge-Ropers) syndrome
The protein product of the Drosophila additional sex combs-like (Asx) gene was shown to be a regulator, both a suppressor and an activator, of Hox developmental genes. Mammals, including humans, possess 3 Asx orthologs: 2 expressed ubiquitously, while the third, ASXL3, is predominantly expressed in the brain. All 3 are involved in transcriptional regulation of many genes through direct actions ...
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BACKGROUND De novo truncating and splicing mutations in the additional sex combs-like 3 (ASXL3) 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. CASE PRESENTATION We describe, for the first time, a patient with severe short stature, learning difficu...
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ژورنال
عنوان ژورنال: The Primary Care Companion For CNS Disorders
سال: 2021
ISSN: 2155-7780
DOI: 10.4088/pcc.20m02783