Rahaf Sultan

Hypoparathyroidism with a TBX1 variant: reconsidering genetic etiologies in the absence of 22q11.2 deletions

Abstract Hypoparathyroidism is most commonly postsurgical, but autoimmune and genetic causes should be considered in the absence of prior neck surgery. T-box transcription factor 1 (TBX1) is a dosage-sensitive regulator of pharyngeal pouch and parathyroid development. While DiGeorge syndrome classically results from a...