Abstract
Hypotrichosis simplex of the scalp (HSS) is characterized by progressive loss of scalp hair at a young age with often devastating psychological implications for affected children. HSS is often caused by dominant nonsense variants in CDSN encoding corneodesmosin. The resulting mutant protein leads to the formation of an amyloid like material, which interferes with normal hair follicle cycle. Decreasing the level of the mutant protein is therefore expected to result in a clinically beneficial effect.
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