Extending the critical regions for mutations in the non-coding gene RNU4ATAC in another patient with Roifman Syndrome
Author:
Affiliation:
1. MGZ - Medical Genetics Center; Munich Germany
Publisher
Wiley
Subject
General Medicine
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ccr3.1830/fullpdf
Reference13 articles.
1. Antibody deficiency, growth retardation, spondyloepiphyseal dysplasia and retinal dystrophy: a novel syndrome;Roifman;Clin Genet,1999
2. Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing;Merico;Nat Commun,2015
3. The significant other: splicing by the minor spliceosome;Turunen;Wiley Interdiscip Rev RNA,2013
4. The expanding phenotype of RNU4ATAC pathogenic variants to Lowry Wood syndrome;Farach;Am J Med Genet A,2018
5. Early-onset primary antibody deficiency resembling common variable immunodeficiency challenges the diagnosis of Wiedeman-Steiner and Roifman syndromes;Bogaert;Sci Rep,2017
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3. Time is of the essence: the molecular mechanisms of primary microcephaly;Genes & Development;2021-12-01
4. Chromosomal instability by mutations in the novel minor spliceosome component CENATAC;The EMBO Journal;2021-05-19
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