De Novo Splice Site Variant of TCF12 in a Boy With Isolated Kallmann Syndrome
Conclusion: These results broaden the mutation spectrum of TCF12. More importantly, this study argues for the etiological relationship between TCF12 variants and isolated Kallmann syndrome.
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| Main Authors: | Erina Suzuki, Hirohito Shima, Aki Ueda, Kazuhiko Nakabayashi, Keiko Matsubara, Yoko Kuroki, Junko Kanno, Maki Fukami |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Wiley
2025-01-01
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| Series: | Case Reports in Endocrinology |
| Online Access: | http://dx.doi.org/10.1155/crie/2350842 |
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