Article
Immunofluorescence analysis of villous trophoblasts: a tool for prenatal diagnosis of inherited epidermolysis bullosa with pyloric atresia.
The Journal of investigative dermatology - 1 Dec 2008
D'Alessio Marina, Zambruno Giovanna, Charlesworth Alexandra, Lacour Jean-Philippe, Meneguzzi Guerrino
Abstract excerpt
Genetic mutations invalidating the genes for integrin alpha6beta4 and, in some cases, plectin are associated with junctional and simplex epidermolysis bullosa with pyloric atresia (PA-JEB and PA-EBS), respectively. These recessive inherited conditions are characterized by pregnancies with fetal b...
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