患者垂体柄部分重复，其染色体 14 存在杂合性缺失，该缺失区域包含甲状腺转录因子-1 基因。
Duplication of the pituitary stalk in a patient with a heterozygous deletion of chromosome 14 harboring the thyroid transcription factor-1 gene.
机构信息
Unit of Internal Medicine and Endocrinology, Fondazione Salvatore Maugeri Instituto di Ricovero e Cura a Carattere Scientifico, University of Pavia, Via Maugeri 10, 27100 Pavia, Italy.
出版信息
J Clin Endocrinol Metab. 2010 Aug;95(8):3595-6. doi: 10.1210/jc.2010-0621.
PMID:20685887
Abstract
Magnetic resonance imaging of the hypothalamic-pituitary region revealed a duplication of the pituitary stalk in a patient with a heterozygous deletion of chromosome 14 harboring the thyroid transcription factor-1 gene.
摘要
磁共振成像显示，一名 14 号染色体杂合性缺失并携带甲状腺转录因子-1 基因的患者存在垂体柄重复。
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