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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.
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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  Data: De novo retrotransposon insertion into the FGFR1 gene in a boy with congenital hypogonadotropic hypogonadism: a case report.
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  Data: <searchLink fieldCode="AU" term="%22Sawano+K%22">Sawano K</searchLink>; Division of Pediatrics, Department of Homeostatic Regulation and Development, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan.<br /><searchLink fieldCode="AU" term="%22Nagasaki+K%22">Nagasaki K</searchLink>; Division of Pediatrics, Department of Homeostatic Regulation and Development, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan.<br /><searchLink fieldCode="AU" term="%22Suzuki+E%22">Suzuki E</searchLink>; Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.<br /><searchLink fieldCode="AU" term="%22Ogiwara+Y%22">Ogiwara Y</searchLink>; Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.<br /><searchLink fieldCode="AU" term="%22Kageyama+I%22">Kageyama I</searchLink>; Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.<br /><searchLink fieldCode="AU" term="%22Fukami+M%22">Fukami M</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Kuroki+Y%22">Kuroki Y</searchLink>; 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.
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  Data: <searchLink fieldCode="JN" term="%22101555782%22">Frontiers in endocrinology</searchLink> [Front Endocrinol (Lausanne)] 2025 Jun 18; Vol. 16, pp. 1565316. <i>Date of Electronic Publication: </i>2025 Jun 18 (<i>Print Publication: </i>2025).
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        Value: 10.3389/fendo.2025.1565316
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      – TitleFull: De novo retrotransposon insertion into the FGFR1 gene in a boy with congenital hypogonadotropic hypogonadism: a case report.
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              Text: 2025 Jun 18
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