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.
J Cañueto, M Girós, S Ciria, G Pi-Castán, M Artigas, J García-Dorado, V García-Patos, A Virós, T Vendrell, A Torrelo, A Hernández-Martín, E Martín-Hernández, M T Garcia-Silva, M Fernández-Burriel, J Rosell, M Tejedor, F Martínez, J Valero, J L García, E M Sánchez-Tapia, P Unamuno, R González-Sarmiento
The British journal of dermatology 2012;166(4):830-8