207 Improving diagnostic yield for filaggrin; hidden mutations in the Dutch population
نویسندگان
چکیده
منابع مشابه
Filaggrin mutations and the skin.
Filaggrin is very important in the terminal differentiation of the skin and the formation of cornified envelope in the stratum corneum. Several mutations in the filaggrin gene have been identified in the last decade, mostly from the European countries. Loss of function mutations in the filaggrin gene results in reduced production of filaggrin, depending on the type and site of mutation. Such mu...
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BACKGROUND Physicians attempting to make a diagnosis arrive at specific hypotheses early in their encounter with patients. Further data are collected in the light of these early hypotheses. While this hypothetico-deductive model has been accepted as both a description of physicians' data gathering and a norm, little attention has been paid to the preceding stage of the consultation. HYPOTHESI...
متن کاملFilaggrin Mutations are Associated with Ichthyosis Vulgaris in the Southern Chinese Population
IV (OMIM 146700) is the most common ichthyosis with an estimated prevalence of 1:250–1000, and is inherited in a semidominant pattern [1]. Patients have light grey scaling, keratosis pilaris, increased palmoplantar markings and associated atopic manifestations. Involvement is generally mild and may vary greatly with climate and humidity. There is reduced or absence of keratohyalin granules in t...
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هدف اصلی این مطالعه تهیه یک سامانه نوین چسب عاجی دندانی بر پایه نانورس پیوند شده با پلی متاکریلیک اسید، نانورس پیوند شده با پلی اکریلیک اسید، مخلوط نانوسیلیکا و نانورس پیوند شده با پلی متاکریلیک اسید، مخلوط نانوسیلیکا و نانورس پیوند شده با پلی اکریلیک اسید و نانورس پیوند شده با کیتوسان اصلاح شده با گلایسیدیل متاکریلات است. پیوند پلی متاکریلیک اسید و پلی اکریلیک اسید بر ری سطح نانورس در حضور و ...
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ژورنال
عنوان ژورنال: Journal of Investigative Dermatology
سال: 2017
ISSN: 0022-202X
DOI: 10.1016/j.jid.2017.07.204