Inherited disorders of the thyroid system
نویسندگان
چکیده
منابع مشابه
the laboratory diagnosis of inherited metabolic disorders
diagnosing inherited metabolic disorders is a joint effort of both clinical and laboratory disciplines. various aspects of metabolite, enzyme and mutation analysis will be discussed based on the experience of the metabolic section of the erasmus university medical centre. where should laboratory diagnosis start from? metabolite, enzyme or dna level? the emphasis will be on enzyme analysis of th...
متن کاملDiagnosis of inherited metabolic disorders affecting the nervous system.
Knowledge of the molecular causes for genetic diseases that affect the nervous system is rapidly expanding. Especially striking has been the finding in several autosomal dominant neurodegenerative disorders that unstable expansions of trinucleotide repeats are responsible for the genetic disorder and that the length of the repeat can be correlated with the age of onset and the severity of sympt...
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چکیده ندارد.
15 صفحه اولInherited Disorders of the Hair
Acanthosis nigricans – an ill-defined, velvety, hyperpigmented plaque involving the fold of the skin, including the axilla, neck and groin Atrichia – absence of hair Atrophoderma – atrophy of the skin Blepharitis – inflammation of the eyelids Cicatricial alopecia – scarring alopecia Copy number variations – DNA segments with 1 kb or more of gains or losses Corneodesmosin – a protein found in co...
متن کاملThe Prevalence of Thyroid Disorders in Pregnant Women of Hamadan
Introduction: Different studies have demonstrated that maternal thyroid dysfunction during pregnancy is associated with adverse obstetrics and fetal outcomes. There is no international consensus regarding to use a guidelines for screening in high risk women. The aim of the present study was to determine prevalence of thyroid disorders in high and low risk pregnant women. Methods: In a cross-se...
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ژورنال
عنوان ژورنال: American Journal of Medical Genetics
سال: 1997
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19970211)68:4<489::aid-ajmg27>3.0.co;2-n