نتایج جستجو برای: harlequin ichthyosis
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CMAJ • NOVEMBER 23, 2010 • 182(17) © 2010 Canadian Medical Association or its licensors E801 Ahealthy girl was born at term after an uncomplicated pregnancy and delivery. When she was five days old, unilateral erythema with contralateral pallor developed that was strikingly demarcated at midline (Figure 1). This phenomenon occurred after the infant had been placed on her right side, with the er...
Harlequin ichthyosis (HI)--the most severe form of keratinizing disorders, often lethal in the neonatal period--is characterized by a profound thickening of the keratin skin layer, a dense "armor"-like scale that covers the body, and contraction abnormalities of the eyes, ears, and mouth. In this issue of the JCI, Akiyama et al. report that mutations in ABCA12 caused defective lipid transport t...
Neu-Laxova syndrome is a rare, lethal, autosomal recessive disorder characterized by intrauterine growth retardation, central nervous system anomalies, skin findings, such as ichthyosis, edema, collodion baby and harlequin fetus, facial dysmorphic features, limb anomalies and genital hypoplasia. Although it is generally a lethal condition, cases of such patients who lived beyond 6 months and 10...
Harlequin ichthyosis (HI) is a severe skin disease which leads to neonatal death in ∼50% of cases. It is the result of mutations in ABCA12, a protein that transports lipids required to establish the protective skin barrier needed after birth. To better understand the life-threatening newborn HI phenotype, we analysed the developing epidermis for consequences of lipid dysregulation in mouse mode...
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