New genetic syndrome found, arising from errors in ‘master switch’ during early development

2 marzo 2015

Analyzing a puzzling multisystem disorder in three children, genetic experts have identified a new syndrome, shedding light on key biological processes during human development. The investigators named the disorder CHOPS syndrome, with the acronym representing a group of symptoms seen in the affected children: cognitive impairment and coarse facies (facial features), heart defects, obesity, pulmonary involvement, short stature and skeletal dysplasia (abnormal bone development).
http://feeds.sciencedaily.com/~r/sciencedaily/~3/AeoPmDyIbd0/150302121611.htm

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