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: | , , , , , , , |
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| Format: | Article |
| Language: | English |
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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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| _version_ | 1849702823155990528 |
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| author | Erina Suzuki Hirohito Shima Aki Ueda Kazuhiko Nakabayashi Keiko Matsubara Yoko Kuroki Junko Kanno Maki Fukami |
| author_facet | Erina Suzuki Hirohito Shima Aki Ueda Kazuhiko Nakabayashi Keiko Matsubara Yoko Kuroki Junko Kanno Maki Fukami |
| author_sort | Erina Suzuki |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-c8aada44305845b285fcde8831c57ea3 |
| institution | DOAJ |
| issn | 2090-651X |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Endocrinology |
| spelling | doaj-art-c8aada44305845b285fcde8831c57ea32025-08-20T03:17:31ZengWileyCase Reports in Endocrinology2090-651X2025-01-01202510.1155/crie/2350842De Novo Splice Site Variant of TCF12 in a Boy With Isolated Kallmann SyndromeErina Suzuki0Hirohito Shima1Aki Ueda2Kazuhiko Nakabayashi3Keiko Matsubara4Yoko Kuroki5Junko Kanno6Maki Fukami7Department of Molecular EndocrinologyDepartment of PediatricsDivision of Diversity ResearchDepartment of Maternal-Fetal BiologyDivision of Diversity ResearchDivision of Diversity ResearchDepartment of PediatricsDepartment of Molecular EndocrinologyConclusion: These results broaden the mutation spectrum of TCF12. More importantly, this study argues for the etiological relationship between TCF12 variants and isolated Kallmann syndrome.http://dx.doi.org/10.1155/crie/2350842 |
| spellingShingle | Erina Suzuki Hirohito Shima Aki Ueda Kazuhiko Nakabayashi Keiko Matsubara Yoko Kuroki Junko Kanno Maki Fukami De Novo Splice Site Variant of TCF12 in a Boy With Isolated Kallmann Syndrome Case Reports in Endocrinology |
| title | De Novo Splice Site Variant of TCF12 in a Boy With Isolated Kallmann Syndrome |
| title_full | De Novo Splice Site Variant of TCF12 in a Boy With Isolated Kallmann Syndrome |
| title_fullStr | De Novo Splice Site Variant of TCF12 in a Boy With Isolated Kallmann Syndrome |
| title_full_unstemmed | De Novo Splice Site Variant of TCF12 in a Boy With Isolated Kallmann Syndrome |
| title_short | De Novo Splice Site Variant of TCF12 in a Boy With Isolated Kallmann Syndrome |
| title_sort | de novo splice site variant of tcf12 in a boy with isolated kallmann syndrome |
| url | http://dx.doi.org/10.1155/crie/2350842 |
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