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...
I tiakina i:
| Ngā kaituhi matua: | , |
|---|---|
| Hōputu: | Artigo |
| Reo: | Chinês |
| I whakaputaina: |
Hunan Xiangya Medical Periodical Press Co., Ltd.
2026-02-01
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| Rangatū: | 中国当代儿科杂志 |
| Ngā marau: | |
| Urunga tuihono: | https://www.zgddek.com/EN/10.7499/j.issn.1008-8830.2508150 |
| Ngā Tūtohu: |
Kāore He Tūtohu, Me noho koe te mea tuatahi ki te tūtohu i tēnei pūkete!
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