A homozygous missense mutation in human KLOTHO causes severe tumoral calcinosis.
Ichikawa S; Imel EA; Kreiter ML; Yu X; Mackenzie DS; Sorenson AH; Goetz R; Mohammadi M; White KE; Econs MJ; The Journal Of Clinical Investigation, 2007, vol. 117, issue 9, p 2684, ISSN 00219738. ISBN 00219738.

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