McCune-Albright Syndrome with Acromegaly and Fibrous Dysplasia Associated with the GNAS Gene Mutation Identified by Sensitive PNA-clamping Method
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概要
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A 16-year-old girl presented with McCune-Albright syndrome associated with acromegaly and fibrous dysplasia. Brain MRI demonstrated a pituitary tumor. X-ray films showed bone deformities, and 99TmO4 bone scintigraphy revealed increased uptake of radioactivity in the affected bones. Although the serum FGF23 level was increased, the serum calcium, phosphate, and active vitamin D levels were all within normal limits. GNAS gene mutation was detected at neither codon 201 nor 227 by conventional PCR-based direct sequencing analysis. We performed a selective PCR with peptide nucleic acid (PNA) clamping to increase the sensitivity for gene mutation detection and identified the R201C GNAS mutation.
- 社団法人 日本内科学会の論文
著者
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Imanishi Yasuo
Department Of Metabolism Endocrinology And Molecular Medicine Osaka City University Graduate School
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Takahashi Yutaka
Division Of Diabetes Metabolism And Endocrinology Department Of Internal Medicine Kobe University Gr
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TAKAHASHI KENTARO
Division of Diabetes, Metabolism and Endocrinology, Department of Internal Medicine, Kobe University
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OKIMURA YASUHIKO
Department of Basic Allied Medicine, Kobe University School of Medicine
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Kaji Hidesuke
Division of Physiology&Metabolism, University of Hyogo
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Nishizawa Hitoshi
Division Of Diabetes Metabolism And Endocrinology Department Of Internal Medicine Kobe University Gr
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Okimura Yasuhiko
Department Of Basic Allied Medicine Kobe University School Of Medicine
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Imanaka Mari
Division Of Diabetes Metabolism And Endocrinology Department Of Internal Medicine Kobe University Gr
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Takeno Ryoko
Division Of Diabetes Metabolism And Endocrinology Department Of Internal Medicine Kobe University Gr
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Fukuoka Hidenori
Division Of Diabetes Metabolism And Endocrinology Department Of Internal Medicine Kobe University Gr
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Iida Keiji
Division Of Diabetes And Endocrinology Hyogo Prefectural Kakogawa Medical Center
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Chihara Kazuo
Division Of Diabetes And Endocrinology Hyogo Prefectural Kakogawa Medical Center
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Kaji Hiroshi
Division Of Diabetes And Endocrinology Department Of Internal Medicine Kobe University Graduate Scho
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Iida Keiji
Division of Endocrinology/Metabolism, Neurology, and Hematology/Oncology, Department of Clinical Molecular Medicine, Kobe University Graduate School of Medicine
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Imanaka Mari
Division of Endocrinology/Metabolism, Neurology, and Hematology/Oncology, Department of Clinical Molecular Medicine, Kobe University Graduate School of Medicine
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Takahashi Kentaro
Division of Endocrinology/Metabolism, Neurology, and Hematology/Oncology, Department of Clinical Molecular Medicine, Kobe University Graduate School of Medicine
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