{
    "PMID": "10482950",
    "TI": "Chediak-Higashi syndrome associated with maternal uniparental isodisomy of chromosome 1.",
    "JT": "European journal of human genetics : EJHG",
    "BTI": "",
    "DP": "1999-09",
    "AU": "Dufourcq-Lagelouse R, Lambert N, Duval M, Viot G, Vilmer E, Fischer A, Prieur M, de Saint Basile G"
}