Literature DB >> 11476068

B cell immunodeficiency, distal limb abnormalities, and urogenital malformations in a three generation family: a novel autosomal dominant syndrome?

P Edery, F Le Deist, M L Briard, M Debré, A Munnich, C Griscelli, A Fischer, S Lyonnet.   

Abstract

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Year:  2001        PMID： 11476068      PMCID： PMC1757192          DOI： 10.1136/jmg.38.7.488

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  2 in total

1.  Identifying pathogenic variants in the Follistatin-like 1 gene (FSTL1) in patients with skeletal and atrioventricular valve disorders.

Authors:  Stuti Prakash; Andrea Mattiotti; Marc Sylva; Barbara J M Mulder; Alex V Postma; Maurice J B van den Hoff
Journal:  Mol Genet Genomic Med       Date:  2019-02-05       Impact factor: 2.183

2.  Topoisomerase 2β mutation impairs early B-cell development.

Authors:  Olivier Papapietro; Anita Chandra; Davide Eletto; Sarah Inglott; Vincent Plagnol; James Curtis; Mailis Maes; Ali Alisaac; Adriana S Albuquerque; Eugenie Basseres; Olivier Hermine; Capucine Picard; Alain Fischer; Anne Durandy; Sven Kracker; Siobhan O Burns; Delphine Cuchet-Lourenco; Klaus Okkenhaug; Sergey Nejentsev
Journal:  Blood       Date:  2020-04-23       Impact factor: 22.113
  2 in total

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