Primary adrenal insufficiency and hypogonadotropic hypogonadism associated with NR0B1 (DAX1) gene nonsense mutation (p.Gln155*) in a patient with empty sellae syndrome.

IF 3.8 4区医学 Q1 MEDICINE, GENERAL & INTERNAL

Polskie Archiwum Medycyny Wewnetrznej-Polish Archives of Internal Medicine Pub Date : 2025-01-30 Epub Date: 2024-09-24 DOI:10.20452/pamw.16848

Alicja Szatko, Barbara Badura, Dorota Leszczyńska, Beata Woźniak, Wojciech Zgliczyński, Piotr Glinicki

引用次数: 0

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一名空蝶鞍综合征患者的 NR0B1 (DAX1) 基因无义突变（p.Gln155*）导致的原发性肾上腺功能不全和性腺功能减退症。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Polskie Archiwum Medycyny Wewnetrznej-Polish Archives of Internal Medicine MEDICINE, GENERAL & INTERNAL-

CiteScore

4.50

自引率

0.00%

发文量

176

审稿时长

6-12 weeks

期刊介绍： Polish Archives of Internal Medicine is an international, peer-reviewed periodical issued monthly in English as an official journal of the Polish Society of Internal Medicine. The journal is designed to publish articles related to all aspects of internal medicine, both clinical and basic science, provided they have practical implications. Polish Archives of Internal Medicine appears monthly in both print and online versions.