A study identifies a PRKACA gene duplication at 19p13.12 in a female patient with primary pigmented nodular adrenal disease (PPNAD) and thyroid carcinoma, highlighting a potential genetic link after a 20-year diagnostic journey. This discovery may inform future research and treatment strategies for these conditions.
identification of a prkaca duplication at 19p13 12 in a female with ppnad and thyroid carcinoma after a 20 year diagnostic journey
Original title: “The identification of a PRKACA duplication at 19p13.12 in a female with PPNAD and thyroid carcinoma after a 20-year diagnostic journey.”