Systemic lupus erythematosus in a girl with PTEN variant and transaldolase deficiency: a novel phenotype
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DOI: 10.1007/s10067-020-05205-1
Abstract: Genetic defect of phosphatase and tensin homolog (PTEN) gene might play a role in B cell hyperactivity and result in the development of systemic lupus erythematosus (SLE), while transaldolase deficiency has a spectrum of clinical… read more here.
Keywords: transaldolase deficiency; systemic lupus; lupus erythematosus; transaldolase ... See more keywords