Associated Papers
Review Recent progress in identification and characterization of loci associated with sex-linked congenital cataract.
Zhang DD et al.
Genetics and Molecular Research : Gmr, 2016
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
Conradi-Hünermann-Happle syndrome in males vs. MEND syndrome (male EBP disorder with neurological defects).
Arnold AW et al.
The British Journal of Dermatology, 2012
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
Novel mutations in X-linked dominant chondrodysplasia punctata (CDPX2).
Whittock NV et al.
The Journal of Investigative Dermatology, 2003
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