Atypical phenotype? The answer’s in the genotype: AGS caused by a novel RNASEH2C variant combined with XLA caused by a BTK deficiency.
(2021) Rheumatology (Print) — Vol. 60, n° 7, p. e240-e242 (2021)
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- Authors
Boulanger, Cécile 
- et. al.
- Abstract
- (en) DEAR EDITOR, The feasibility of testing multiple genes at once using Next Generation Sequencing, particularly Whole Exome Sequencing (WES), has expanded the phenotypic spectrum associated with many disease genes. Distinguishing atypical presentation from combined gene effects and incidental from causal findings can however be challenging, particularly when composite phenotypes are themselves extremely rare. [...]
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Citations
Boulanger, C., Chatzis, O., Nolf, D., Brichard, B., Lauwerys, B., Nassogne, M.-C., Limaye, N., & et al. (2021). Atypical phenotype? The answer’s in the genotype: AGS caused by a novel RNASEH2C variant combined with XLA caused by a BTK deficiency. Rheumatology (Print), 60(7), e240-e242. https://doi.org/10.1093/rheumatology/keab051 (Original work published 2021)