Literature DB >> 35389122

EPG5 Compound Heterozygous Unreported Pathogenic Variants in a Mexican Patient with Vici Syndrome.

Miguel Rodríguez-Morales1, Eduardo Liquidano-Perez2, Gilda Garza-Mayén1, Lilia Patricia Bustamante-Montes3, Camilo Villarroel-Cortés4.   

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Year:  2022        PMID： 35389122     DOI： 10.1007/s10875-022-01266-w

Source DB:  PubMed          Journal:  J Clin Immunol        ISSN： 0271-9142            Impact factor:   8.542


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  2 in total

1.  Immunodeficiency in Vici syndrome: a heterogeneous phenotype.

Authors:  Andrea Finocchi; Giulia Angelino; Nicoletta Cantarutti; Maurizio Corbari; Elsa Bevivino; Simona Cascioli; Francesco Randisi; Enrico Bertini; Carlo Dionisi-Vici
Journal:  Am J Med Genet A       Date:  2011-09-30       Impact factor: 2.802

Review 2.  Vici syndrome: a review.

Authors:  Susan Byrne; Carlo Dionisi-Vici; Luke Smith; Mathias Gautel; Heinz Jungbluth
Journal:  Orphanet J Rare Dis       Date:  2016-02-29       Impact factor: 4.123
  2 in total

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