García Silva, María Teresa Martín Hernández, Elena
Clinical, molecular and biochemical characterization of nine Spanish families with Conradi-Hunermann-Happle syndrome: new insights into X-linked dominant chondrodysplasia punctata with a comprehensive review of the literature. [artículo] - British Journal of Dermatology, 2012 - 166(4):830-8.
Formato Vancouver:
Cañueto J, Girós M, Ciria S, Pi-Castán G, Artigas M, García-Dorado J, et al. 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. Br J Dermatol. 2012 Apr;166(4):830-8.
PMID: 22121851
Contiene 22 referencias
Conradi-Hunermann-Happle syndrome (CDPX2, OMIM 302960) is an inherited X linked dominant variant of chondrodysplasia puttctata which primarily affects the skin, bones and eyes. CDPX2 results from mutations in EBP (emopamil binding protein), and presents with increased levels of sterol precursors 8(9) cholestenol and 8 dehydsocholesterol.
Clinical, molecular and biochemical characterization of nine Spanish families with Conradi-Hunermann-Happle syndrome: new insights into X-linked dominant chondrodysplasia punctata with a comprehensive review of the literature. [artículo] - British Journal of Dermatology, 2012 - 166(4):830-8.
Formato Vancouver:
Cañueto J, Girós M, Ciria S, Pi-Castán G, Artigas M, García-Dorado J, et al. 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. Br J Dermatol. 2012 Apr;166(4):830-8.
PMID: 22121851
Contiene 22 referencias
Conradi-Hunermann-Happle syndrome (CDPX2, OMIM 302960) is an inherited X linked dominant variant of chondrodysplasia puttctata which primarily affects the skin, bones and eyes. CDPX2 results from mutations in EBP (emopamil binding protein), and presents with increased levels of sterol precursors 8(9) cholestenol and 8 dehydsocholesterol.
