Overview

Coffin–Lowry syndrome


Show Summary Details

Quick Reference

A rare form of X-linked mental retardation characterized by skeletal malformations, growth retardation, hearing deficit, paroxysmal movement disorders, and cognitive impairment caused by mutations in the RSK2 gene for ribosomal S6 kinase, a growth factor-regulated serine/threonine kinase.

Subjects: Medicine and Health.


Reference entries

Users without a subscription are not able to see the full content. Please, subscribe or login to access all content.