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Article

Immunodeficiency in Vici syndrome: a heterogeneous phenotype.

American journal of medical genetics. Part A - 1 Feb 2012

Finocchi Andrea, Angelino Giulia, Cantarutti Nicoletta, Corbari Maurizio, Bevivino Elsa, Cascioli Simona, Randisi Francesco, Bertini Enrico, Dionisi-Vici Carlo

Abstract excerpt

Vici syndrome is a rare congenital multisystem disorder characterized by agenesis of the corpus callosum, hypotonia, developmental delay, hypopigmentation, cataract, cardiomyopathy, and immunological abnormalities. Recurrent infections, mainly affecting the respiratory tract, have been reported in the majority of cases, representing an important risk factor for morbidity and mortality. The immunological phenotype...

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Identifiers

PMID: 21965116
DOI: 10.1002/ajmg.a.34244

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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