Paternal Uniparental Isodisomy of Chromosome 6 Causing a Complex Syndrome Including Complete IFN-gamma Receptor 1 Deficiency

Carolina Prando, Stephanie Boisson-Dupuis, Audrey V. Grant, Xiao-Fei Kong, Jacinta Bustamante, Jacqueline Feinberg, Ariane Chapgier, Yoann Rose, Lucile Janniere, Elena Rizzardi, Qiuping Zhang, Catherine M. Shanahan, Louis Viollet, Stanislas Lyonnet, Laurent Abel, Ezia Maria Ruga, Jean-Laurent Casanova

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22 Citations (Scopus)

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Medicine and Dentistry

Biochemistry, Genetics and Molecular Biology