New insights into Brunner syndrome and potential for targeted therapy
نویسندگان
چکیده
منابع مشابه
New insights into Brunner syndrome and potential for targeted therapy.
We report two families with Brunner syndrome living in one state of Australia. The first family had a predicted protein-truncating variant of monoamine oxidase A (MAOA) (p.S251KfsX2). Affected males had mild intellectual disability (ID), obsessive behaviour, limited friendships and were introverted and placid during clinical interview. The family disclosed episodic explosive aggression after a ...
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ژورنال
عنوان ژورنال: Clinical Genetics
سال: 2015
ISSN: 0009-9163
DOI: 10.1111/cge.12589