Atypical phenotype? The answer's in the genotype: AGS caused by a novel RNASEH2C variant combined with XLA caused by a BTK deficiency.
- Resource Type
- Article
- Source
Rheumatology . Jul2021, Vol. 60 Issue 7, pe240-e242. 3p.- Subject
- *
X-linked genetic disorders
*SEQUENCE analysis
*AICARDI-Goutieres syndrome
*AGAMMAGLOBULINEMIA
*GENES
*BRUTON tyrosine kinase
*GENOTYPES
*PHENOTYPES - Language
- ISSN
- 1462-0324