Associated Papers
Prospective prenatal cell-free DNA screening for genetic conditions of heterogenous etiologies.
Zhang J et al.
Nature Medicine, 2024
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
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
Novel and recurrent EBP mutations in X-linked dominant chondrodysplasia punctata.
Ikegawa S et al.
American Journal of Medical Genetics, 2000
Mutations in a delta 8-delta 7 sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata. [email protected].
Derry JM et al.
Nature Genetics, 1999
Mutations in the gene encoding 3 beta-hydroxysteroid-delta 8, delta 7-isomerase cause X-linked dominant Conradi-Hünermann syndrome.
Braverman N et al.
Nature Genetics, 1999
Characterization of mutations in 22 females with X-linked dominant chondrodysplasia punctata (Happle syndrome).
Herman GE et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 0
Emopamil binding protein mutation in conradi-hünermann-happle syndrome representing plaque-type psoriasis.
Ozyurt K et al.
Indian Journal of Dermatology, 0
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