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However, the baby developed sepsis and septic shock and died at about 2\u2009months of age. Skin biopsy revealed cleavage above the lamina densa, and genetic analysis indicated heterozygosity in ITGB4 exons 10 and 16, which are associated with epidermolysis bullosa junctionalis and pyloric atresia.<\/jats:p>","DOI":"10.1136\/bcr-2024-260488","type":"journal-article","created":{"date-parts":[[2024,7,29]],"date-time":"2024-07-29T12:55:39Z","timestamp":1722257739000},"page":"e260488","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Congenital pyloric atresia associated with epidermolysis bullosa junctionalis: a novel lethal variant"],"prefix":"10.1136","volume":"17","author":[{"ORCID":"https:\/\/orcid.org\/0009-0006-4756-5502","authenticated-orcid":false,"given":"M Sai Pratap","family":"Reddy","sequence":"first","affiliation":[{"name":"Neonatology, AIIMS Raipur, Raipur, Chattisgarh, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rohit","family":"Anand","sequence":"additional","affiliation":[{"name":"Neonatology, AIIMS Raipur, Raipur, Chattisgarh, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Phalguni","family":"Padhi","sequence":"additional","affiliation":[{"name":"Neonatology, All India Institute of Medical Sciences Raipur, Raipur, Chattisgardh, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shirisha","family":"Katravath","sequence":"additional","affiliation":[{"name":"MNR Medical College and Hospital, Sangareddy, Telangana, India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2024,7,29]]},"reference":[{"key":"2025082713253031000_17.7.e260488.1","doi-asserted-by":"crossref","first-page":"433","DOI":"10.1046\/j.1365-4362.2000.00998.x","article-title":"Epidermolysis bullosa in mexico","volume":"39","author":"Uitto","year":"2000","journal-title":"Int J Dermatol"},{"key":"2025082713253031000_17.7.e260488.2","unstructured":"Morelli JG . 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