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Published in 2021 at "International Journal of Surgery Case Reports"
DOI: 10.1016/j.ijscr.2021.106070
Abstract: Carmi syndrome is a rare and severe disease defined by pyloric atresia and junctional epidermolysis bullosa. There are no clear recommendations when to consider a curative therapy, including surgical repair of pyloric atresia and when…
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Keywords:
pyloric atresia;
case;
report;
carmi syndrome ... See more keywords
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Published in 2019 at "Journal of the European Academy of Dermatology and Venereology"
DOI: 10.1111/jdv.16153
Abstract: Epidermolysis bullosa with pyloric atresia (EB-PA) is a rare, autosomal recessive form of epidermolysis bullosa characterized by mucocutaneous fragility, intestinal obstruction, and frequent urologic and renal abnormalities. The clinical course is typically lethal in the…
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Keywords:
bullosa pyloric;
pyloric atresia;
consistently demonstrates;
epidermolysis bullosa ... See more keywords