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Williams–Beuren syndrome


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A neurodevelopmental disorder (William's syndrome) that can involve supravalvular aortic stenosis (SVAS), multiple peripheral pulmonary arterial stenoses, elfin face, mental and statural deficiency, characteristic dental malformation, and infantile hypercalcaemia. It is caused by the hemizygous deletion of several genes (~1.5 Mbp) on chromosome 7q11.23, among which are those for elastin, LIM kinase-1, replication factor C, and MAGI.

Subjects: Chemistry — Medicine and Health.


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