C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome

Sensenbrenner syndrome is a rare inherited disorder with dysmorphic symptoms. Prominently, the skeleton, nails, teeth, and hair are affected. This can be accompanied by chronic kidney disease, retinal degeneration, and other features. Sensenbrenner syndrome results from dysfunction of the cilium, a protrusion of the cell surface that somewhat resembles an antenna, also regarding its sensory [...]

Source: http://blogs.bmj.com/jmg/2011/03/05/c14orf179-encoding-ift43-is-mutated-in-sensenbrenner-syndrome/

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