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Identification of a Novel IGSF1 Variant in Two Malaysian Male Siblings with Central Hypothyroidism and Macroorchidism

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Title: Identification of a Novel IGSF1 Variant in Two Malaysian Male Siblings with Central Hypothyroidism and Macroorchidism
Authors: Lee YL; Universiti Putra Malaysia Faculty of Medicine and Health Sciences, Department of Pediatrics, Division of Pediatric Endocrine Unit, Selangor, Malaysia, Ting TH; Universiti Putra Malaysia Faculty of Medicine and Health Sciences, Department of Pediatrics, Division of Pediatric Endocrine Unit, Selangor, Malaysia, Lim CT; Universiti Putra Malaysia Faculty of Medicine and Health Sciences, Department of Biomedical Science, Selangor, Malaysia, Thilakavathy K; Universiti Putra Malaysia Faculty of Medicine and Health Sciences, Department of Biomedical Science, Selangor, Malaysia; Universiti Putra Malaysia, Malaysian Research Institute on Ageing (MyAgeing™), Selangor, Malaysia, Musa NH; Universiti Putra Malaysia Faculty of Medicine and Health Sciences, Department of Biomedical Science, Selangor, Malaysia, Ling KH; Universiti Putra Malaysia Faculty of Medicine and Health Sciences, Department of Biomedical Science, Selangor, Malaysia; Universiti Putra Malaysia, Malaysian Research Institute on Ageing (MyAgeing™), Selangor, Malaysia
Source: Journal of clinical research in pediatric endocrinology [J Clin Res Pediatr Endocrinol] 2026 Jul 01; Vol. 18 (2), pp. 346-350. Date of Electronic Publication: 2024 Apr 19.
Publication Type: Journal Article; Case Reports
Journal Info: Publisher: Galenos Yayınevi Country of Publication: Turkey NLM ID: 101519456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1308-5735 (Electronic) NLM ISO Abbreviation: J Clin Res Pediatr Endocrinol Subsets: MEDLINE
Database: MEDLINE Ultimate
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PubType: Academic Journal
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  Data: Identification of a Novel IGSF1 Variant in Two Malaysian Male Siblings with Central Hypothyroidism and Macroorchidism
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  Data: <searchLink fieldCode="AU" term="%22Lee+YL%22">Lee YL</searchLink>; Universiti Putra Malaysia Faculty of Medicine and Health Sciences, Department of Pediatrics, Division of Pediatric Endocrine Unit, Selangor, Malaysia<br /><searchLink fieldCode="AU" term="%22Ting+TH%22">Ting TH</searchLink>; Universiti Putra Malaysia Faculty of Medicine and Health Sciences, Department of Pediatrics, Division of Pediatric Endocrine Unit, Selangor, Malaysia<br /><searchLink fieldCode="AU" term="%22Lim+CT%22">Lim CT</searchLink>; Universiti Putra Malaysia Faculty of Medicine and Health Sciences, Department of Biomedical Science, Selangor, Malaysia<br /><searchLink fieldCode="AU" term="%22Thilakavathy+K%22">Thilakavathy K</searchLink>; Universiti Putra Malaysia Faculty of Medicine and Health Sciences, Department of Biomedical Science, Selangor, Malaysia; Universiti Putra Malaysia, Malaysian Research Institute on Ageing (MyAgeing™), Selangor, Malaysia<br /><searchLink fieldCode="AU" term="%22Musa+NH%22">Musa NH</searchLink>; Universiti Putra Malaysia Faculty of Medicine and Health Sciences, Department of Biomedical Science, Selangor, Malaysia<br /><searchLink fieldCode="AU" term="%22Ling+KH%22">Ling KH</searchLink>; Universiti Putra Malaysia Faculty of Medicine and Health Sciences, Department of Biomedical Science, Selangor, Malaysia; Universiti Putra Malaysia, Malaysian Research Institute on Ageing (MyAgeing™), Selangor, Malaysia
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  Data: <searchLink fieldCode="JN" term="%22101519456%22">Journal of clinical research in pediatric endocrinology</searchLink> [J Clin Res Pediatr Endocrinol] 2026 Jul 01; Vol. 18 (2), pp. 346-350. <i>Date of Electronic Publication: </i>2024 Apr 19.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Galenos+Yayınevi%22">Galenos Yayınevi </searchLink><i>Country of Publication: </i>Turkey <i>NLM ID: </i>101519456 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1308-5735 (Electronic) <i>NLM ISO Abbreviation: </i>J Clin Res Pediatr Endocrinol <i>Subsets: </i>MEDLINE
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      – Type: doi
        Value: 10.4274/jcrpe.galenos.2024.2023-12-1
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      – Code: eng
        Text: English
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        StartPage: 346
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      – TitleFull: Identification of a Novel IGSF1 Variant in Two Malaysian Male Siblings with Central Hypothyroidism and Macroorchidism
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            NameFull: Lee YL
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            NameFull: Ting TH
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            NameFull: Lim CT
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            NameFull: Thilakavathy K
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            NameFull: Musa NH
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            NameFull: Ling KH
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          Dates:
            – D: 01
              M: 07
              Text: 2026 Jul 01
              Type: published
              Y: 2026
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              Value: 1308-5735
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              Value: 18
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              Value: 2
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            – TitleFull: Journal of clinical research in pediatric endocrinology
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