Identification and Functional Characterization of a Novel Variant in the SEMA3A Gene in a Chinese Family with Kallmann Syndrome
Background. Kallmann syndrome (KS) is a rare genetic disease characterized by the reproductive system and olfactory dysplasia due to the defective migration of gonadotropin-releasing hormone (GnRH) neurons. However, this disorder is clinically heterogeneous and the genotype-phenotype relationship ha...
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| Main Authors: | Meng Shu, Huixiao Wu, Shuoshuo Wei, Yingzhou Shi, Zongyue Li, Yiping Cheng, Li Fang, Chao Xu |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Wiley
2022-01-01
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| Series: | International Journal of Endocrinology |
| Online Access: | http://dx.doi.org/10.1155/2022/2504660 |
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