Immune Deficiency in Microcephalic Osteodysplastic Primordial Dwarfism Type I/III
Author:
Funder
Potentials Foundation
Walking with Giants Foundation
Publisher
Springer Science and Business Media LLC
Subject
Immunology,Immunology and Allergy
Link
https://link.springer.com/content/pdf/10.1007/s10875-023-01447-1.pdf
Reference5 articles.
1. Benoit-Pilven C, Besson A, Putoux A, Benetollo C, Saccaro C, Guguin J, et al. Clinical interpretation of variants identified in RNU4ATAC, a non-coding spliceosomal gene. PLoS One. 2020;15(7):e0235655.
2. Sigaudy S, Toutain A, Moncla A, Fredouille C, Bourlière B, Ayme S, et al. Microcephalic osteodysplastic primordial dwarfism Taybi-Linder type: report of four cases and review of the literature. Am J Med Genet. 1998;80(1):16–24.
3. Kilic E, Yigit G, Utine GE, Wollnik B, Mihci E, Nur BG, et al. A novel mutation in RNU4ATAC in a patient with microcephalic osteodysplastic primordial dwarfism type I. Am J Med Genet A. 2015;167A(4):919–21.
4. Bogaert DJ, Dullaers M, Kuehn HS, Leroy BP, Niemela JE, De Wilde H, et al. Early-onset primary antibody deficiency resembling common variable immunodeficiency challenges the diagnosis of Wiedeman-Steiner and Roifman syndromes. Sci Rep. 2017;7(1):3702.
5. Farach LS, Little ME, Duker AL, Logan CV, Jackson A, Hecht JT, et al. The expanding phenotype of RNU4ATAC pathogenic variants to Lowry Wood syndrome. Am J Med Genet A. 2018;176(2):465–9.
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