A 4-Year-Old Boy with an Accidentally Detected Mutation in the RET Proto-Oncogene and Mutation in the Gene Encoding the Ryanodine Receptor1 (RyR1)-Case Report

• Үндсэн зохиолчид: Magdalena Mierzwa (Зохиогч), Małgorzata Blaska (Зохиогч), Marek Hamm (Зохиогч), Agnieszka Czarniecka (Зохиогч), Jolanta Krajewska (Зохиогч), Anna Taczanowska-Niemczuk (Зохиогч), Agnieszka Zachurzok (Зохиогч)
• Формат: Ном
• Хэвлэсэн: MDPI AG, 2023-12-01T00:00:00Z.
• Нөхцлүүд: article
• Онлайн хандалт: Connect to this object online.

Multiple endocrine neoplasia 2B (MEN2B) is a rare syndrome with prevalence estimated at approximately 0.2 per 100,000; it is caused by mutation of the RET proto-oncogene. MEN2B is characterized by early-onset medullary thyroid carcinoma (MTC), ganglioneuromatosis of the aerodigestive tract, marfanoi...