Associated Papers
A novel EBP c.224T>A mutation supports the existence of a male-specific disorder independent of CDPX2.
Barboza-Cerda MC et al.
American Journal of Medical Genetics. Part A, 2014
The role of the abnormalities in the distal pathway of cholesterol biosynthesis in the Conradi-Hünermann-Happle syndrome.
Cañueto J et al.
Biochimica Et Biophysica Acta, 2014
TM6SF2 and MAC30, new enzyme homologs in sterol metabolism and common metabolic disease.
Sanchez-Pulido L et al.
Frontiers in Genetics, 2014
High 8-dehydrocholesterol level in a typical case of Conradi-Hunermann-Happle syndrome with a novel H76Y missense mutation.
Umekoji A et al.
Journal of Dermatological Science, 2008
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