نتایج جستجو برای: harlequin ichthyosis
تعداد نتایج: 2442 فیلتر نتایج به سال:
Mutations in ceramide biosynthesis pathways have been implicated in a few Mendelian disorders of keratinization, although ceramides are known to have key roles in several biological processes in skin and other tissues. Using whole-exome sequencing in four probands with undiagnosed skin hyperkeratosis/ichthyosis, we identified compound heterozygosity for mutations in KDSR, encoding an enzyme in ...
BACKGROUND Ichthyosis is an infrequent clinical entity worldwide (1:300,000 births). When diagnosed in a newborn, two forms can be identified: collodion baby and its most severe form, harlequin fetus or maligna keratoma. In both cases, clinical manifestations are thick and hard skin with deep splits. The splits are more prominent in the flexion areas. CASE We report a case of a 4- day-old bab...
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