Two novel mutations of the human Δ7-sterol reductase (DHCR7) gene in children with Smith-Lemli-Opitz syndrome

C. Patrono, C. Dionisi-Vici, A. Giannotti, B. Bembi, M. C. Digilio, C. Rizzo, C. Purificato, C. Martini, R. Pierini, F. M. Santorelli

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Medicine & Life Sciences