Chediak-Higashi syndrome associated with maternal uniparental isodisomy of chromosome 1.
Dufourcq-Lagelouse R; Lambert N; Duval M; Viot G; Vilmer E; Fischer A; Prieur M; de Saint Basile G; European Journal Of Human Genetics: EJHG, 1999, vol. 7, issue 6, p 633, ISSN 10184813. ISBN 10184813.

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