An Asymptomatic, Ectopic Mass as a Presentation of Adrenocortical Carcinoma Due to a Novel Germline <i>TP53</i> p.Phe338Leu Tetramerisation Domain Variant

Adrenocortical carcinoma (ACC) is a rare cancer in childhood. ACC is frequently associated with germline <i>TP53</i> variants, with founder effects especially due to the p.Arg337His mutation. ACC leads to the secretion of adrenocortical hormones, resulting in endocrine syndromes, which is the usual...

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主要な著者:	Justyna Walenciak, Zuzanna Urbanska, Agata Pastorczak, Katarzyna Babol-Pokora, Kamila Wypyszczak, Ewa Bien, Aleksandra Gawlowska-Marciniak, Jozef Kobos, Wieslawa Grajkowska, Joanna Smyczynska, Wojciech Mlynarski, Szymon Janczar
フォーマット:	Artigo
言語:	Inglês
出版事項:	MDPI AG 2023-11-01
シリーズ:	Children
主題:	Li–Fraumeni syndrome adrenocortical carcinoma cancer predisposition TP53
オンライン･アクセス:	https://www.mdpi.com/2227-9067/10/11/1793
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