A novel frameshift mutation (141delT) in exon 1 of the 21-hydroxylase gene(CYP21) in a patient with the salt wasting form of congenital adrenal hyperplasia
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چکیده
منابع مشابه
a swot analysis of the english program of a bilingual school in iran
با توجه به جایگاه زبان انگلیسی به عنوان زبانی بین المللی و با در نظر گرفتن این واقعیت که دولت ها و مسئولان آموزش و پرورش در سراسر جهان در حال حاضر احساس نیاز به ایجاد موقعیتی برای کودکان جهت یاد گیری زبان انگلیسی درسنین پایین در مدارس دو زبانه می کنند، تحقیق حاضر با استفاده از مدل swot (قوت ها، ضعف ها، فرصتها و تهدیدها) سعی در ارزیابی مدرسه ای دو زبانه در ایران را دارد. جهت انجام این تحقیق در م...
15 صفحه اولConcurrence of Meningomyelocele and Salt-Wasting Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency
Congenital adrenal hyperplasia (CAH) is a group of inherited defects of cortisol biosynthesis. A case of classical CAH due to 21-hydroxylase deficiency (21-OHD) with early onset of salt waste and concurrence of meningomyelocele (MMC) was presented here. The management of salt-wasting crisis which is complicated by a postrenal dysfunction due to neurogenic bladder was described. Possible reasons...
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15 صفحه اولMineralocorticoid replacement during infancy for salt wasting congenital adrenal hyperplasia due to 21-hydroxylase deficiency
OBJECTIVE The protocols for glucocorticoid replacement in children with salt wasting 21-hydroxylase deficiency are well established; however, the current recommendation for mineralocorticoid replacement is general and suggests individualized dose adjustments. This study aims to retrospectively review the 9-α-fludrocortisone dose regimen in salt wasting 21-hydroxylase deficient children who have...
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ژورنال
عنوان ژورنال: Human Mutation
سال: 1999
ISSN: 1059-7794,1098-1004
DOI: 10.1002/(sici)1098-1004(1999)14:1<90::aid-humu20>3.0.co;2-h