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A de novo INSR variant in Type A insulin resistance syndrome: familial investigation and genetic implications.

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Title: A de novo INSR variant in Type A insulin resistance syndrome: familial investigation and genetic implications.
Authors: Lin X; Department of Pediatrics and Traditional Chinese Medicine and Nephrology and Hematology, Shengli Clinical Medical College of Fujian Medical University, Fujian provincial hospital, Fuzhou University Affiliated Provincial Hospital, Fuzhou, China., Xu ZY; Department of Pediatrics and Traditional Chinese Medicine and Nephrology and Hematology, Shengli Clinical Medical College of Fujian Medical University, Fujian provincial hospital, Fuzhou University Affiliated Provincial Hospital, Fuzhou, China., Xie LJ; Department of Oncology, Zhangzhou Traditional Chinese Medical Hospital, Affiliated Zhangzhou TCM Hospital, Fujian University of Traditional Chinese Medicine, Zhangzhou, China., Zhu J; Fujian University of Traditional Chinese Medicine, Fuzhou, China., Yu HP; Department of Pediatrics and Traditional Chinese Medicine and Nephrology and Hematology, Shengli Clinical Medical College of Fujian Medical University, Fujian provincial hospital, Fuzhou University Affiliated Provincial Hospital, Fuzhou, China., Wang RL; Department of Emergency, Fuzhou University Affiliated Provincial Hospital, Fuzhou University, Fuzhou, China; Fujian Provincial Key Laboratory of Emergency Medicine, Fujian Provincial Institute of Emergency Medicine, Fujian Emergency Medical Center, Fuzhou, China., Luo YJ; Department of Pediatrics and Traditional Chinese Medicine and Nephrology and Hematology, Shengli Clinical Medical College of Fujian Medical University, Fujian provincial hospital, Fuzhou University Affiliated Provincial Hospital, Fuzhou, China., Zou J; Department of Pediatrics and Traditional Chinese Medicine and Nephrology and Hematology, Shengli Clinical Medical College of Fujian Medical University, Fujian provincial hospital, Fuzhou University Affiliated Provincial Hospital, Fuzhou, China., Zhang JH; Department of Pediatrics and Traditional Chinese Medicine and Nephrology and Hematology, Shengli Clinical Medical College of Fujian Medical University, Fujian provincial hospital, Fuzhou University Affiliated Provincial Hospital, Fuzhou, China., Chen Q; Department of Pediatrics and Traditional Chinese Medicine and Nephrology and Hematology, Shengli Clinical Medical College of Fujian Medical University, Fujian provincial hospital, Fuzhou University Affiliated Provincial Hospital, Fuzhou, China., Wang PF; Department of Pediatrics and Traditional Chinese Medicine and Nephrology and Hematology, Shengli Clinical Medical College of Fujian Medical University, Fujian provincial hospital, Fuzhou University Affiliated Provincial Hospital, Fuzhou, China., Ruan DD; Department of Pediatrics and Traditional Chinese Medicine and Nephrology and Hematology, Shengli Clinical Medical College of Fujian Medical University, Fujian provincial hospital, Fuzhou University Affiliated Provincial Hospital, Fuzhou, China., Zhou YF; Department of Pediatrics and Traditional Chinese Medicine and Nephrology and Hematology, Shengli Clinical Medical College of Fujian Medical University, Fujian provincial hospital, Fuzhou University Affiliated Provincial Hospital, Fuzhou, China., Chen L; Department of Pediatrics and Traditional Chinese Medicine and Nephrology and Hematology, Shengli Clinical Medical College of Fujian Medical University, Fujian provincial hospital, Fuzhou University Affiliated Provincial Hospital, Fuzhou, China., Huang FM; Department of Pediatrics and Traditional Chinese Medicine and Nephrology and Hematology, Shengli Clinical Medical College of Fujian Medical University, Fujian provincial hospital, Fuzhou University Affiliated Provincial Hospital, Fuzhou, China., Gao MZ; Department of Pediatrics and Traditional Chinese Medicine and Nephrology and Hematology, Shengli Clinical Medical College of Fujian Medical University, Fujian provincial hospital, Fuzhou University Affiliated Provincial Hospital, Fuzhou, China., Zhang L; Department of Pediatrics and Traditional Chinese Medicine and Nephrology and Hematology, Shengli Clinical Medical College of Fujian Medical University, Fujian provincial hospital, Fuzhou University Affiliated Provincial Hospital, Fuzhou, China., Li YF; Department of Pediatrics and Traditional Chinese Medicine and Nephrology and Hematology, Shengli Clinical Medical College of Fujian Medical University, Fujian provincial hospital, Fuzhou University Affiliated Provincial Hospital, Fuzhou, China., Fang ZT; Department of Oncology and Vascular Interventional Therapy, Clinical Oncology School of Fujian Medical University, Fujian Cancer Hospital (Fujian Branch of Fudan University Shanghai Cancer Center), Fuzhou, China., Wang J; Department of Pediatrics and Traditional Chinese Medicine and Nephrology and Hematology, Shengli Clinical Medical College of Fujian Medical University, Fujian provincial hospital, Fuzhou University Affiliated Provincial Hospital, Fuzhou, China., Liao LS; Department of Pediatrics and Traditional Chinese Medicine and Nephrology and Hematology, Shengli Clinical Medical College of Fujian Medical University, Fujian provincial hospital, Fuzhou University Affiliated Provincial Hospital, Fuzhou, China., Zheng ZH; Department of Pediatrics and Traditional Chinese Medicine and Nephrology and Hematology, Shengli Clinical Medical College of Fujian Medical University, Fujian provincial hospital, Fuzhou University Affiliated Provincial Hospital, Fuzhou, China. Electronic address: 751422449@qq.com., Hu B; Department of Cardiology, Beijing Anzhen Hospital, Capital Medical University, Beijing Institute of Heart Lung and Blood Vessel Disease, Beijing Key Laboratory of Precision Medicine of Coronary Atherosclerotic Disease, Clinical Center for Coronary Heart Disease, Beijing , China. Electronic address: hubin80@126.com., Lin XF; Department of Pediatrics and Traditional Chinese Medicine and Nephrology and Hematology, Shengli Clinical Medical College of Fujian Medical University, Fujian provincial hospital, Fuzhou University Affiliated Provincial Hospital, Fuzhou, China. Electronic address: 418665840@qq.com., Luo JW; Department of Pediatrics and Traditional Chinese Medicine and Nephrology and Hematology, Shengli Clinical Medical College of Fujian Medical University, Fujian provincial hospital, Fuzhou University Affiliated Provincial Hospital, Fuzhou, China. Electronic address: docluo0421@aliyun.com.
Source: Gene [Gene] 2026 Feb 10; Vol. 979, pp. 149934. Date of Electronic Publication: 2025 Dec 06.
Publication Type: Journal Article; Case Reports
Journal Info: Publisher: Elsevier/North-Holland Country of Publication: Netherlands NLM ID: 7706761 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1879-0038 (Electronic) Linking ISSN: 03781119 NLM ISO Abbreviation: Gene Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: A de novo INSR variant in Type A insulin resistance syndrome: familial investigation and genetic implications.
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  Data: <searchLink fieldCode="AU" term="%22Lin+X%22">Lin X</searchLink>; Department of Pediatrics and Traditional Chinese Medicine and Nephrology and Hematology, Shengli Clinical Medical College of Fujian Medical University, Fujian provincial hospital, Fuzhou University Affiliated Provincial Hospital, Fuzhou, China.<br /><searchLink fieldCode="AU" term="%22Xu+ZY%22">Xu ZY</searchLink>; Department of Pediatrics and Traditional Chinese Medicine and Nephrology and Hematology, Shengli Clinical Medical College of Fujian Medical University, Fujian provincial hospital, Fuzhou University Affiliated Provincial Hospital, Fuzhou, China.<br /><searchLink fieldCode="AU" term="%22Xie+LJ%22">Xie LJ</searchLink>; Department of Oncology, Zhangzhou Traditional Chinese Medical Hospital, Affiliated Zhangzhou TCM Hospital, Fujian University of Traditional Chinese Medicine, Zhangzhou, China.<br /><searchLink fieldCode="AU" term="%22Zhu+J%22">Zhu J</searchLink>; Fujian University of Traditional Chinese Medicine, Fuzhou, China.<br /><searchLink fieldCode="AU" term="%22Yu+HP%22">Yu HP</searchLink>; Department of Pediatrics and Traditional Chinese Medicine and Nephrology and Hematology, Shengli Clinical Medical College of Fujian Medical University, Fujian provincial hospital, Fuzhou University Affiliated Provincial Hospital, Fuzhou, China.<br /><searchLink fieldCode="AU" term="%22Wang+RL%22">Wang RL</searchLink>; Department of Emergency, Fuzhou University Affiliated Provincial Hospital, Fuzhou University, Fuzhou, China; Fujian Provincial Key Laboratory of Emergency Medicine, Fujian Provincial Institute of Emergency Medicine, Fujian Emergency Medical Center, Fuzhou, China.<br /><searchLink fieldCode="AU" term="%22Luo+YJ%22">Luo YJ</searchLink>; Department of Pediatrics and Traditional Chinese Medicine and Nephrology and Hematology, Shengli Clinical Medical College of Fujian Medical University, Fujian provincial hospital, Fuzhou University Affiliated Provincial Hospital, Fuzhou, China.<br /><searchLink fieldCode="AU" term="%22Zou+J%22">Zou J</searchLink>; Department of Pediatrics and Traditional Chinese Medicine and Nephrology and Hematology, Shengli Clinical Medical College of Fujian Medical University, Fujian provincial hospital, Fuzhou University Affiliated Provincial Hospital, Fuzhou, China.<br /><searchLink fieldCode="AU" term="%22Zhang+JH%22">Zhang JH</searchLink>; Department of Pediatrics and Traditional Chinese Medicine and Nephrology and Hematology, Shengli Clinical Medical College of Fujian Medical University, Fujian provincial hospital, Fuzhou University Affiliated Provincial Hospital, Fuzhou, China.<br /><searchLink fieldCode="AU" term="%22Chen+Q%22">Chen Q</searchLink>; Department of Pediatrics and Traditional Chinese Medicine and Nephrology and Hematology, Shengli Clinical Medical College of Fujian Medical University, Fujian provincial hospital, Fuzhou University Affiliated Provincial Hospital, Fuzhou, China.<br /><searchLink fieldCode="AU" term="%22Wang+PF%22">Wang PF</searchLink>; Department of Pediatrics and Traditional Chinese Medicine and Nephrology and Hematology, Shengli Clinical Medical College of Fujian Medical University, Fujian provincial hospital, Fuzhou University Affiliated Provincial Hospital, Fuzhou, China.<br /><searchLink fieldCode="AU" term="%22Ruan+DD%22">Ruan DD</searchLink>; Department of Pediatrics and Traditional Chinese Medicine and Nephrology and Hematology, Shengli Clinical Medical College of Fujian Medical University, Fujian provincial hospital, Fuzhou University Affiliated Provincial Hospital, Fuzhou, China.<br /><searchLink fieldCode="AU" term="%22Zhou+YF%22">Zhou YF</searchLink>; Department of Pediatrics and Traditional Chinese Medicine and Nephrology and Hematology, Shengli Clinical Medical College of Fujian Medical University, Fujian provincial hospital, Fuzhou University Affiliated Provincial Hospital, Fuzhou, China.<br /><searchLink fieldCode="AU" term="%22Chen+L%22">Chen L</searchLink>; Department of Pediatrics and Traditional Chinese Medicine and Nephrology and Hematology, Shengli Clinical Medical College of Fujian Medical University, Fujian provincial hospital, Fuzhou University Affiliated Provincial Hospital, Fuzhou, China.<br /><searchLink fieldCode="AU" term="%22Huang+FM%22">Huang FM</searchLink>; Department of Pediatrics and Traditional Chinese Medicine and Nephrology and Hematology, Shengli Clinical Medical College of Fujian Medical University, Fujian provincial hospital, Fuzhou University Affiliated Provincial Hospital, Fuzhou, China.<br /><searchLink fieldCode="AU" term="%22Gao+MZ%22">Gao MZ</searchLink>; Department of Pediatrics and Traditional Chinese Medicine and Nephrology and Hematology, Shengli Clinical Medical College of Fujian Medical University, Fujian provincial hospital, Fuzhou University Affiliated Provincial Hospital, Fuzhou, China.<br /><searchLink fieldCode="AU" term="%22Zhang+L%22">Zhang L</searchLink>; Department of Pediatrics and Traditional Chinese Medicine and Nephrology and Hematology, Shengli Clinical Medical College of Fujian Medical University, Fujian provincial hospital, Fuzhou University Affiliated Provincial Hospital, Fuzhou, China.<br /><searchLink fieldCode="AU" term="%22Li+YF%22">Li YF</searchLink>; Department of Pediatrics and Traditional Chinese Medicine and Nephrology and Hematology, Shengli Clinical Medical College of Fujian Medical University, Fujian provincial hospital, Fuzhou University Affiliated Provincial Hospital, Fuzhou, China.<br /><searchLink fieldCode="AU" term="%22Fang+ZT%22">Fang ZT</searchLink>; Department of Oncology and Vascular Interventional Therapy, Clinical Oncology School of Fujian Medical University, Fujian Cancer Hospital (Fujian Branch of Fudan University Shanghai Cancer Center), Fuzhou, China.<br /><searchLink fieldCode="AU" term="%22Wang+J%22">Wang J</searchLink>; Department of Pediatrics and Traditional Chinese Medicine and Nephrology and Hematology, Shengli Clinical Medical College of Fujian Medical University, Fujian provincial hospital, Fuzhou University Affiliated Provincial Hospital, Fuzhou, China.<br /><searchLink fieldCode="AU" term="%22Liao+LS%22">Liao LS</searchLink>; Department of Pediatrics and Traditional Chinese Medicine and Nephrology and Hematology, Shengli Clinical Medical College of Fujian Medical University, Fujian provincial hospital, Fuzhou University Affiliated Provincial Hospital, Fuzhou, China.<br /><searchLink fieldCode="AU" term="%22Zheng+ZH%22">Zheng ZH</searchLink>; Department of Pediatrics and Traditional Chinese Medicine and Nephrology and Hematology, Shengli Clinical Medical College of Fujian Medical University, Fujian provincial hospital, Fuzhou University Affiliated Provincial Hospital, Fuzhou, China. Electronic address: 751422449@qq.com.<br /><searchLink fieldCode="AU" term="%22Hu+B%22">Hu B</searchLink>; Department of Cardiology, Beijing Anzhen Hospital, Capital Medical University, Beijing Institute of Heart Lung and Blood Vessel Disease, Beijing Key Laboratory of Precision Medicine of Coronary Atherosclerotic Disease, Clinical Center for Coronary Heart Disease, Beijing , China. Electronic address: hubin80@126.com.<br /><searchLink fieldCode="AU" term="%22Lin+XF%22">Lin XF</searchLink>; Department of Pediatrics and Traditional Chinese Medicine and Nephrology and Hematology, Shengli Clinical Medical College of Fujian Medical University, Fujian provincial hospital, Fuzhou University Affiliated Provincial Hospital, Fuzhou, China. Electronic address: 418665840@qq.com.<br /><searchLink fieldCode="AU" term="%22Luo+JW%22">Luo JW</searchLink>; Department of Pediatrics and Traditional Chinese Medicine and Nephrology and Hematology, Shengli Clinical Medical College of Fujian Medical University, Fujian provincial hospital, Fuzhou University Affiliated Provincial Hospital, Fuzhou, China. Electronic address: docluo0421@aliyun.com.
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  Data: <searchLink fieldCode="JN" term="%227706761%22">Gene</searchLink> [Gene] 2026 Feb 10; Vol. 979, pp. 149934. <i>Date of Electronic Publication: </i>2025 Dec 06.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Elsevier%2FNorth-Holland%22">Elsevier/North-Holland </searchLink><i>Country of Publication: </i>Netherlands <i>NLM ID: </i>7706761 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1879-0038 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2203781119%22">03781119 </searchLink><i>NLM ISO Abbreviation: </i>Gene <i>Subsets: </i>MEDLINE
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