Two novel translocation breakpoints upstream of SOX9 define borders of the proximal and distal breakpoint cluster region in campomelic dysplasia

Leipoldt, M ; Erdel, M ; Bien-Willner, GA ; Smyk, M ; Theurl, M ; Yatsenko, SA ; Lupski, JR ; Lane, AH ; Shanske, AL ; Stankiewicz, P ; Scherer, G

Clinical genetics, 2007-01, Vol.71 (1), p.67-75 [Periódico revisado por pares]

Oxford, UK: Blackwell Publishing Ltd

Texto completo disponível