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
Javier Cañueto Álvarez; Girós M; Ciria S; Pi-Castán G; Artigas M; García-Dorado J; García-Patos V; Virós A; Vendrell T; Torrelo A; Hernández-Martín A; Martín-Hernández E; Garcia-Silva MT; Fernández-Burriel M; Rosell J; Tejedor M; Martínez F; Luis Felix Valero Juan; Juan Luis García Hernández; Eva María Sánchez Tapia; Pablo Unamuno Pérez; Rogelio González Sarmiento
British Journal Of Dermatology ; 166, pp. 830 - 838