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Letter
Nature Genetics 33, 508–513 (1 April 2003) | doi:10.1038/ng1134
A defective response to Hedgehog signaling in disorders of cholesterol biosynthesis
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Abstract
Smith–Lemli–Opitz syndrome (SLOS), desmosterolosis and lathosterolosis are human syndromes caused by defects in the final stages of cholesterol biosynthesis. Many of the developmental malformations in these syndromes occur in tissues and structures whose embryonic patterning depends on signaling by the Hedgehog (Hh) family of secreted proteins.
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