CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype

CHARGE syndrome involves multiple congenital anomalies caused by mutations in the CHD7 gene. In our study, we evaluated the clinical characteristics of 280 patients with CHD7 mutations and confirmed that the clinical presentation is highly variable. Even family members, who all had the same mutation, were variably affected. We also report some individuals who have [...]

Source: http://blogs.bmj.com/jmg/2011/03/05/chd7-mutations-and-charge-syndrome-the-clinical-implications-of-an-expanding-phenotype/

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