Differential Expression of Pyloric Atresia in Junctional Epidermolysis Bullosa with ITGB4 Mutations Suggests that Pyloric Atresia is due to Factors Other than the Mutations and Not Predictive of a Poor Outcome: Three Novel Mutations and a Review of the Li
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چکیده
منابع مشابه
Pyloric atresia-junctional epidermolysis bullosa syndrome showing novel c.4505-4508insACTC mutations in integrin b4 gene (ITGB4).
Epidermolysis bullosa (EB) is a group of inherited blistering skin diseases that vary widely in their pathogenesis and severity. It has been divided into distinct subtypes depending on the level of tissue separation in the dermal- epidermal basement membrane zone. There are four main categories of EB: simplex, junctional, dystrophic and Kindler syndrome. Junctional epidermolysis bullosa with py...
متن کاملPrenatal diagnosis of junctional epidermolysis bullosa associated with pyloric atresia.
Prenatal diagnosis of junctional epidermolysis bullosa associated with pyloric atresia was carried out in a couple at risk. Their two previous children had died during the first months of life of the same disorder despite surgery for the pyloric abnormality. Ultrastructural study of fetal skin biopsies obtained at 18 weeks' gestation showed dermal-epidermal separation at the lamina lucida level...
متن کاملCase of Epidermolysis Bullosa with Pyloric Atresia
Epidermolysis bullosa (EB) is a rare hereditary disorder characterized by formation of blisters following minor trauma. It has been traditionally categorized by the level of basement membrane zone separation into EB simplex (EBS), junctional EB (JEB), and dystrophic EB (DEB). Recently, hemidesmosomal EB has been proposed as a fourth category, which includes EB with muscular dystrophy and EB wit...
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to discuss my point, i have collected quite a number of articles, anthologies, and books about "wuthering heights" applying various ideas and theories to this fantastic story. hence, i have come to believe that gadamer and jauss are rightful when they claim that "the individaul human mind is the center and origin of all meaning," 3 that reading literature is a reader-oriented activity, that it ...
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ژورنال
عنوان ژورنال: Acta Dermato Venereologica
سال: 2008
ISSN: 0001-5555
DOI: 10.2340/00015555-0484