Kallmann syndrome in a girl caused by a novel CHD7 variant
This article reports the case of a 15-year-old girl with primary amenorrhea and olfactory dysfunction. Evaluation demonstrated hypogonadotropic hypogonadism, and an initial clinical diagnosis of Kallmann syndrome was made. Whole-exome sequencing identified a novel heterozygous CHD7 variant, c.5238_5...
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| 主要な著者: | , |
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| フォーマット: | Artigo |
| 言語: | Chinês |
| 出版事項: |
Hunan Xiangya Medical Periodical Press Co., Ltd.
2026-02-01
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| シリーズ: | 中国当代儿科杂志 |
| 主題: | |
| オンライン･アクセス: | https://www.zgddek.com/EN/10.7499/j.issn.1008-8830.2508150 |
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