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Lucia Perroni

10

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Deletion of NSD1 exon 14 in Sotos syndrome: first description

2011 Journal of Genetics
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Clinical and molecular profile of a new series of patients with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome: Inconsistent correlation between forkhead box protein 3 expression and disease severity

2008 The Journal of Allergy and Clinical Immunology
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Mechanistic associations of a mild phenotype of immunodysregulation, polyendocrinopathy, enteropathy, x-linked syndrome.

2006 Clinical Gastroenterology and Hepatology
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OR.40. Foxp3 Mutations in Children: Different Degrees of Impairment in Regulatory and Effector T-Cell Functions in Patients with Distinct Genotypes and Phenotypes

2006 Clinical Immunology
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