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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Bibliographic Details
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
Series:Case Reports in Endocrinology
Online Access:http://dx.doi.org/10.1155/crie/2350842
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