Associated Papers
Conradi-Hünermann-Happle syndrome with minimal signs.
Agud-Dios M et al.
Pediatric Dermatology, 2021
Severe X-linked chondrodysplasia punctata in nine new female fetuses.
Lefebvre M et al.
Prenatal Diagnosis, 2015
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
Non-lethal non-mosaic male with Conradi-Hunermann syndrome caused by a novel EBP c.356T>G mutation.
Bode H et al.
American Journal of Medical Genetics. Part A, 2013
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
A novel X-linked multiple congenital anomaly syndrome associated with an EBP mutation.
Furtado LV et al.
American Journal of Medical Genetics. Part A, 2010
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
Novel mutations in X-linked dominant chondrodysplasia punctata (CDPX2).
Whittock NV et al.
The Journal of Investigative Dermatology, 2003
X-linked dominant chondrodysplasia punctata (CDPX2) caused by single gene mosaicism in a male.
Aughton DJ et al.
American Journal of Medical Genetics. Part A, 2003
Novel and recurrent EBP mutations in X-linked dominant chondrodysplasia punctata.
Ikegawa S et al.
American Journal of Medical Genetics, 2000
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