Abnormal differentiation of B cells and megakaryocytes in patients with Roifman syndrome-Reference-Cited by-同舟云学术

Abnormal differentiation of B cells and megakaryocytes in patients with Roifman syndrome

Published:2018-08 Issue:2 Volume:142 Page:630-646
ISSN:0091-6749
Container-title:Journal of Allergy and Clinical Immunology
language:en
Short-container-title:Journal of Allergy and Clinical Immunology

Author:

Heremans Jessica,Garcia-Perez Josselyn E.,Turro Ernest^ORCID,Schlenner Susan M.,Casteels Ingele,Collin Roxanne,de Zegher Francis,Greene Daniel,Humblet-Baron Stephanie,Lesage Sylvie,Matthys Patrick,Penkett Christopher J.,Put Karen,Stirrups Kathleen,Thys Chantal,Van Geet Chris,Van Nieuwenhove Erika,Wouters Carine,Meyts Isabelle,Freson Kathleen,Liston Adrian

Publisher

Elsevier BV

Subject

Immunology,Immunology and Allergy

Reference52 articles.

1. Antibody deficiency, growth retardation, spondyloepiphyseal dysplasia and retinal dystrophy: a novel syndrome;Roifman;Clin Genet,1999

2. Is Roifman syndrome an X-linked ciliopathy with humoral immunodeficiency? Evidence from 2 new cases;Gray;Int J Immunogenet,2011

3. The cognitive and behavioural phenotype of Roifman syndrome;de Vries;J Intellect Disabil Res,2006

4. Partial agenesis of the corpus callosum, hippocampal atrophy, and stable intellectual disability associated with Roifman syndrome;Fairchild;Am J Med Genet A,2011

5. Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman syndrome by disrupting minor intron splicing;Merico;Nat Commun,2015

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