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McCune Albright Syndrome: Case Report and Review of Literature
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نویسنده
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Rubio Jr Nunilo I ,Nader Shahla ,Brosnan Patrick G.
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منبع
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international journal of endocrinology and metabolism - 2006 - دوره : 4 - شماره : 3 - صفحه:167 -175
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چکیده
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Mccune-albright syndrome is a rare disease defined by two of the three classical findings of polyostotic fibrous dysplasia, cafe au lait spots, and endocrine abnormalities, the most common being precocious puberty. this disease manifests in a mosaic pattern, signifying the sporadic development of disease during embryogenesis. recent literature has characterized the pathogenesis of this disease, which results from a mutation in the gnas gene that causes a persistent activation of the g stimulatory-alpha subunit of the g protein cellular signaling complex. this causes a 'gain of function' in the cells affected. this paper describes three cases of mccune albright's syndrome and reviews the recent literature regarding the pathogenesis of each of the classical findings
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کلیدواژه
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Mc-Cune Albright ,cafe au lait spot ,precocious puberty ,polyostotic fibrous dysplasia ,G stimulatory-alpha mutation
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آدرس
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University of Texas at Houston, Department of Pediatrics, USA, University of Texas at Houston, Department of Internal Medicine, USA, University of Texas at Houston, Department of Pediatrics, USA
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پست الکترونیکی
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nun ilo.i.rubiote tuh.tmc.edu
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Authors
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