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pro vyhledávání: '"Carine Hars"'
Autor:
Jacques J. Picard, Charles Roux, Claude Wolf, Françoise Chevy, Françoise Illien, Carine Hars, Françoise Gofflot
Publikováno v:
Human Molecular Genetics. 12:1187-1198
Human disorders caused by inborn errors of cholesterol biosynthesis are characterized by dysmorphogenesis of multiple organs. This includes limb malformations that are observed at high frequency in some disorders, such as the Smith-Lemli-Opitz syndro