Associated Papers
Adult presentation of X-linked Conradi-Hünermann-Happle syndrome.
Posey JE et al.
American Journal of Medical Genetics. Part A, 2015
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
Novel mutations in X-linked dominant chondrodysplasia punctata (CDPX2).
Whittock NV et al.
The Journal of Investigative Dermatology, 2003
Molecular prenatal diagnosis in a case of an X-linked dominant chondrodysplasia punctata.
Whittock NV et al.
Prenatal Diagnosis, 2003
Novel and recurrent EBP mutations in X-linked dominant chondrodysplasia punctata.
Ikegawa S et al.
American Journal of Medical Genetics, 2000
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