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42. Smith-Lemli-Opitz syndrome: evidence of T93M as a common mutation of delta7-sterol reductase in Italy and report of three novel mutations. De Brasi D, Esposito T, Rossi M, Parenti G, Sperandeo MP, Zuppaldi A, Bardaro T, Ambruzzi MA, Zelante L, Ciccodicola A, Sebastio G, D'Urso M, Andria G. Eur J Hum Genet; 1999 Dec; 7(8):937-40. PubMed ID: 10602371 [Abstract] [Full Text] [Related]
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