PROKR2 mutations and SPRY4 variants with uncertain significance in a Kallmann syndrome family: Incomplete penetrance

PROKR2 mutations and SPRY4 variants with uncertain significance in a Kallmann syndrome family: Incomplete penetrance

Kallmann syndrome is a rare genetic disease characterized by the idiopathic hypogonadotropic hypogonadism with hyposmia or anosmia, which exhibits considerable heterogeneity in genotype and phenotype. Herein, we reported a 32-year-old male patient with Kallmann syndrome in a family associated with h...

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Bibliographic Details
Main Authors: Yuanfan Yuan, Qianqian Huang, Jiehan Zhang, Zehua Zhou, Qing Wan, Lulu Chen, Tianshu Zeng, Huiqing Li, Qiao Zhang, Xiang Hu
Format: Article
Language:English
Published: KeAi Communications Co., Ltd. 2025-06-01
Series:Global Medical Genetics
Subjects:
Kallmann syndrome
PROKR2
SPRY4
Incomplete penetrance
Online Access:http://www.sciencedirect.com/science/article/pii/S2699940425000384
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