Article
Desmosterolosis-phenotypic and molecular characterization of a third case and review of the literature.
American journal of medical genetics. Part A - 1 Jul 2011
Schaaf Christian P, Koster Janet, Katsonis Panagiotis, Kratz Lisa, Shchelochkov Oleg A, Scaglia Fernando, Kelley Richard I, Lichtarge Olivier, Waterham Hans R, Shinawi Marwan
Abstract excerpt
Desmosterolosis, a rare disorder of cholesterol biosynthesis, is caused by mutations in DHCR24, the gene encoding the enzyme 24-dehydrocholesterol reductase (DHCR24). To date, desmosterolosis has been described in only two patients. Here we report on a third patient with desmosterolosis who presented after delivery with relative macrocephaly, mild arthrogryposis, and dysmorphic facial features. Brain MRI revealed...
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