Atypical phenotype? The answer's in the genotype: AGS caused by a novel RNASEH2C variant combined with XLA caused by a BTK deficiency.
Cecile BoulangerOlga ChatzisDelphine NolfBénédicte BrichardBernard LauwerysMarie-Cécile NassogneNisha LimayePublished in: Rheumatology (Oxford, England) (2021)