Associated Papers
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
Clinical, molecular and biochemical characterization of nine Spanish families with Conradi-Hünermann-Happle syndrome: new insights into X-linked dominant chondrodysplasia punctata with a comprehensive review of the literature.
Cañueto J et al.
The British Journal of Dermatology, 2012
Two novel EBP mutations in Conradi-Hünermann-Happle syndrome.
Ausavarat S et al.
European Journal of Dermatology : Ejd, 0
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