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Investigators have found that the absence of autoimmune regulator (Aire) in mice results in fertility problems similar to those affecting men with autoimmune polyendocrine syndrome type I (APS-1). Aire-dependent central tolerance plays a…

A previously healthy infant who suffered aborted sudden cardiac death was found to have a de novo genetic mutation in the SOS1 gene. Such mutations are typical of Noonan syndrome and suggests the syndrome may be a cause of unrecognized…