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Syndrome in question
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نویسنده
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peixoto i.l. ,carreno a.m. ,prazeres v.m.g. ,chirano c.a.r. ,ihara g.m. ,akel p.b.m.
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منبع
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journal brazilian annals of dermatology - 2014 - دوره : 89 - شماره : 6 - صفحه:1005 -1006
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چکیده
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Costello syndrome (cs) is a rare genetic disorder,first described by costello in 1971,caused by mutations in the hras proto-oncogene. clinical findings include facial dysmorphism,skin disorders,cognitive impairment,cardiac and musculoskeletal defects. there is an increased risk of malignancies in these patients,due to the proto-oncogene mutation,and also sudden death secondary to heart disease. we report a case with characteristic phenotype,highlighting the peculiar skin changes. © 2014 by anais brasileiros de dermatologia.
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کلیدواژه
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Costello syndrome; Genes; Proto-oncogenes; Ras
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آدرس
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amazonas federal university (ufam),manaus,am, Brazil, amazonas federal university (ufam),manaus,am, Brazil, amazonas federal university (ufam),manaus,am, Brazil, amazonas federal university (ufam),manaus,am, Brazil, amazonas federal university (ufam),manaus,am, Brazil, amazonas federal university (ufam),manaus,am, Brazil
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Authors
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