Publications by authors named "Zhuo-Jin Dai"
Article Synopsis
- * A family case study showed that a specific mutation in the proto-oncogene was identified in three generations, resulting in diagnoses of pheochromocytomas and bilateral medullary thyroid carcinomas among family members, including a child.
- * Ongoing research and genetic testing are crucial for managing MEN2A, assessing cancer risks, and determining appropriate timing for surgeries based on individual genetic profiles.
Background: Acute intermittent porphyria (AIP) is a rare autosomal dominant porphyrin metabolic disease caused by a mutation in the () gene. This study aimed to explore the clinical manifestations of a patient with AIP, to identify a novel gene mutation in the proband and some of her family members, and to confirm the pathogenicity of the variant.
Case Summary: A 22-year-old Chinese woman developed severe abdominal pain, lumbago, sinus tachycardia, epileptic seizure, hypertension, and weakness in lower limbs in March, 2018.