Incomplete penetrance in primary immunodeficiency: a skeleton in the closet
Author:
Funder
National Institute of Allergy and Infectious Diseases
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://link.springer.com/content/pdf/10.1007/s00439-020-02131-9.pdf
Reference159 articles.
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3. Aldrich RA, Steinberg AG Campbell DC (1954) Pedigree demonstrating a sex-linked recessive condition characterized by draining ears, eczematoid dermatitis and bloody diarrhea. Pediatrics, 13(2): 133–9. https://www.ncbi.nlm.nih.gov/pubmed/13133561.
4. Al-Mousa H et al (2016) Unbiased targeted next-generation sequencing molecular approach for primary immunodeficiency diseases. J Allergy Clin Immunol 137(6):1780–1787. https://doi.org/10.1016/j.jaci.2015.12.1310 (Elsevier Ltd)
5. Ameratunga R et al (2017) Epistatic interactions between mutations of TACI (TNFRSF13B) and TCF3 result in a severe primary immunodeficiency disorder and systemic lupus erythematosus. Clin Transl Immunol Nat Publ Group 6(10):e159. https://doi.org/10.1038/cti.2017.41
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