Systemic lupus erythematosus in a girl with PTEN variant and transaldolase deficiency: a novel phenotype
Sulaiman M. Al‐Mayouf, Ruqaiah Altassan, Mohammed Al‐Owain
Topics & Concepts
PTENTransaldolaseTensinMedicineExonPhenotypeHuman geneticsGeneticsExome sequencingImmunologyCancer researchGeneBiologyInternal medicinePI3K/AKT/mTOR pathwayGlycolysisMetabolismPentose phosphate pathwayApoptosisBiomedical Research and PathophysiologyMast cells and histamineErythrocyte Function and Pathophysiology