De novo retrotransposon insertion into the FGFR1 gene in a boy with congenital hypogonadotropic hypogonadism: a case report.
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| Title: | De novo retrotransposon insertion into the FGFR1 gene in a boy with congenital hypogonadotropic hypogonadism: a case report. |
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| Authors: | Sawano K; Division of Pediatrics, Department of Homeostatic Regulation and Development, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan., Nagasaki K; Division of Pediatrics, Department of Homeostatic Regulation and Development, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan., Suzuki E; Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan., Ogiwara Y; Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan., Kageyama I; Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan., Fukami M; Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.; Division of Diversity Research, National Research Institute for Child Health and Development, Tokyo, Japan., Kuroki Y; Division of Diversity Research, National Research Institute for Child Health and Development, Tokyo, Japan.; Department of Genome Medicine, National Research Institute for Child Health and Development, Tokyo, Japan.; Division of Collaborative Research, National Research Institute for Child Health and Development, Tokyo, Japan. |
| Source: | Frontiers in endocrinology [Front Endocrinol (Lausanne)] 2025 Jun 18; Vol. 16, pp. 1565316. Date of Electronic Publication: 2025 Jun 18 (Print Publication: 2025). |
| Publication Type: | Case Reports; Journal Article |
| Journal Info: | Publisher: Frontiers Research Foundation] Country of Publication: Switzerland NLM ID: 101555782 Publication Model: eCollection Cited Medium: Print ISSN: 1664-2392 (Print) Linking ISSN: 16642392 NLM ISO Abbreviation: Front Endocrinol (Lausanne) Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1664-2392 |
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| DOI: | 10.3389/fendo.2025.1565316 |
