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A novel gain-of-function mutation (W818R) of calcium-sensing receptor in a family with autosomal dominant hypocalcemia type 1.

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Title: A novel gain-of-function mutation (W818R) of calcium-sensing receptor in a family with autosomal dominant hypocalcemia type 1.
Authors: Fu M; Department of Endocrinology, Beijing Hospital, National Center for Gerontology; National Clinical Research Center for Gerontology, The Key Laboratory of Geriatrics of NHC; Institute of Geriatric Medicine, Chinese Academy of Medical Sciences, Beijing, China.; Department of Endocrinology, Wuhan Third Hospital, Wuhan, China., Luo Y; Department of Endocrinology, Beijing Hospital, National Center for Gerontology; National Clinical Research Center for Gerontology, The Key Laboratory of Geriatrics of NHC; Institute of Geriatric Medicine, Chinese Academy of Medical Sciences, Beijing, China.; Peking University Fifth School of Clinical Medicine, Beijing, China., Xu K; Center for Human Genome Research, Key Laboratory of Molecular Biophysics of the Ministry of Education, College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan, China., Guo L; Department of Endocrinology, Beijing Hospital, National Center for Gerontology; National Clinical Research Center for Gerontology, The Key Laboratory of Geriatrics of NHC; Institute of Geriatric Medicine, Chinese Academy of Medical Sciences, Beijing, China.; Peking University Fifth School of Clinical Medicine, Beijing, China., Pan Q; Department of Endocrinology, Beijing Hospital, National Center for Gerontology; National Clinical Research Center for Gerontology, The Key Laboratory of Geriatrics of NHC; Institute of Geriatric Medicine, Chinese Academy of Medical Sciences, Beijing, China.; Peking University Fifth School of Clinical Medicine, Beijing, China.
Source: Frontiers in endocrinology [Front Endocrinol (Lausanne)] 2026 May 08; Vol. 17, pp. 1806677. Date of Electronic Publication: 2026 May 08 (Print Publication: 2026).
Publication Type: Journal Article; Case Reports
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: A novel gain-of-function mutation (W818R) of calcium-sensing receptor in a family with autosomal dominant hypocalcemia type 1.
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  Data: <searchLink fieldCode="AU" term="%22Fu+M%22">Fu M</searchLink>; Department of Endocrinology, Beijing Hospital, National Center for Gerontology; National Clinical Research Center for Gerontology, The Key Laboratory of Geriatrics of NHC; Institute of Geriatric Medicine, Chinese Academy of Medical Sciences, Beijing, China.; Department of Endocrinology, Wuhan Third Hospital, Wuhan, China.<br /><searchLink fieldCode="AU" term="%22Luo+Y%22">Luo Y</searchLink>; Department of Endocrinology, Beijing Hospital, National Center for Gerontology; National Clinical Research Center for Gerontology, The Key Laboratory of Geriatrics of NHC; Institute of Geriatric Medicine, Chinese Academy of Medical Sciences, Beijing, China.; Peking University Fifth School of Clinical Medicine, Beijing, China.<br /><searchLink fieldCode="AU" term="%22Xu+K%22">Xu K</searchLink>; Center for Human Genome Research, Key Laboratory of Molecular Biophysics of the Ministry of Education, College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan, China.<br /><searchLink fieldCode="AU" term="%22Guo+L%22">Guo L</searchLink>; Department of Endocrinology, Beijing Hospital, National Center for Gerontology; National Clinical Research Center for Gerontology, The Key Laboratory of Geriatrics of NHC; Institute of Geriatric Medicine, Chinese Academy of Medical Sciences, Beijing, China.; Peking University Fifth School of Clinical Medicine, Beijing, China.<br /><searchLink fieldCode="AU" term="%22Pan+Q%22">Pan Q</searchLink>; Department of Endocrinology, Beijing Hospital, National Center for Gerontology; National Clinical Research Center for Gerontology, The Key Laboratory of Geriatrics of NHC; Institute of Geriatric Medicine, Chinese Academy of Medical Sciences, Beijing, China.; Peking University Fifth School of Clinical Medicine, Beijing, China.
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  Data: <searchLink fieldCode="JN" term="%22101555782%22">Frontiers in endocrinology</searchLink> [Front Endocrinol (Lausanne)] 2026 May 08; Vol. 17, pp. 1806677. <i>Date of Electronic Publication: </i>2026 May 08 (<i>Print Publication: </i>2026).
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        Value: 10.3389/fendo.2026.1806677
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      – Code: eng
        Text: English
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      – TitleFull: A novel gain-of-function mutation (W818R) of calcium-sensing receptor in a family with autosomal dominant hypocalcemia type 1.
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              Text: 2026 May 08
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              Y: 2026
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              Value: 17
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