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Coffin-Lowry syndrome

Pronunciation: kof'in low're

Definition: characterized by coarse facial features with bulbous nose, large ears, and thick lips; short stature; tapered fingers; skeletal anomalies and mental retardation. X-linked recessive inheritance, caused by mutation in the ribosomal S6 kinase gene (RSK) on chromosome Xp.

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© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review date: Sep 19, 2016.

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