{
    "PMID": "10602371",
    "TI": "Smith-Lemli-Opitz syndrome: evidence of T93M as a common mutation of delta7-sterol reductase in Italy and report of three novel mutations.",
    "JT": "European journal of human genetics : EJHG",
    "BTI": "",
    "DP": "1999-12",
    "AU": "De Brasi D, Esposito T, Rossi M, Parenti G, Sperandeo M P, Zuppaldi A, Bardaro T, Ambruzzi M A, Zelante L, Ciccodicola A, Sebastio G, D'Urso M, Andria G"
}