Two cases of Kallmann syndrome caused by a novel mutation in ANOS1: A case report

This is the first report of 2 cases of KS caused by a new mutation at the ANOS1 locus, expanding the mutation spectrum of ANOS1 and providing data on the clinical and genetic phenotypes of KS, which will assist clinicians in the early diagnosis and treatment of KS.

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Publication Details

Journal
Medicine
Published
2025-04-18
DOI
https://doi.org/10.1097/md.0000000000042139
Primary Topic
Hypothalamic control of reproductive hormones
Type
article
Field-Weighted Citation Impact
0.00
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article

Two cases of Kallmann syndrome caused by a novel mutation in ANOS1: A case report

Jun Xiong, Min Shi, Kui Song, Sheng-Ke Tu et al.
1 links
Medicine
Hypothalamic control of reproductive hormones
article

Two cases of Kallmann syndrome caused by a novel mutation in ANOS1: A case report

Jun Xiong, Min Shi, Kui Song, Sheng-Ke Tu, Min Li
article en

Abstract

This is the first report of 2 cases of KS caused by a new mutation at the ANOS1 locus, expanding the mutation spectrum of ANOS1 and providing data on the clinical and genetic phenotypes of KS, which will assist clinicians in the early diagnosis and treatment of KS.

MedicineVol. 104(16)
Jishou University (CN)
Openalex Percentile: Top 88%
Hypothalamic control of reproductive hormones
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