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clinical manifestations and molecular biology of one case of carney complex: a case report
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نویسنده
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yang mengxue ,long biao ,xu jie ,yu jie ,li xianwen ,ye fanhao ,yang bo ,liao yulan ,li sicheng ,li ya ,zhou xue
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منبع
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iranian journal of public health - 2018 - دوره : 47 - شماره : 4 - صفحه:597 -602
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چکیده
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Carney complex (cnc) is a rare genetic disease. here, we report a case of cnc and explore clinical manifesta- tions and gene mutation studies of cnc. a male patient with cnc at the age of 16 yr was admitted to affiliated hospital of zunyi medical university in july, 2015. although the patient had typical signs of cushing's syn- drome, he also presented with certain rare signs of cushing's syndrome, such as freckle-like scattered spots of pigmentation on the face and around the lips. in addition, concomitant severe osteoporosis led to flattened ver- tebrae and the compression of corresponding levels of the spinal cord. radiographic findings revealed adrenal nodular hyperplasia. based on sequencing, 2 novel heterozygous mutations of the prkar1a gene were found. cnc was eventually diagnosed via pathologic biopsy. after 1 year of follow-up, the patient exhibited weight loss, relief of low back pain, normal blood biochemical indicators and cortisol levels at the lower limit of the normal range.
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کلیدواژه
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primary pigmented nodular adrenocortical disease ,carney complex ,point mutation ,prkar1a gene
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آدرس
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affiliated hospital of zunyi medical university, dept. of endocrinology, china, qiandongnan people’s hospital, dept. of pediatrics, china, zunyi medical university, school of public health, china, zunyi medical university, school of public health, china, affiliated hospital of zunyi medical university, dept. of endocrinology, china, affiliated hospital of zunyi medical university, dept. of endocrinology, china, affiliated hospital of zunyi medical university, dept. of endocrinology, china, affiliated hospital of zunyi medical university, dept. of endocrinology, china, affiliated hospital of zunyi medical university, dept. of endocrinology, china, affiliated hospital of zunyi medical university, dept. of endocrinology, china, affiliated hospital of zunyi medical university, dept. of endocrinology, china
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پست الکترونیکی
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yangmengx123@163.com
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Authors
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