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Results 1 - 5 of 5 for Junctional epidermolysis bullosa with pyloric atresia
  1. Epidermolysis bullosa with pyloric atresia 
    ... for Rare Disorders (NORD) ClinicalTrials.gov EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5B, WITH PYLORIC ATRESIA; JEB5B EPIDERMOLYSIS BULLOSA SIMPLEX 5C, WITH PYLORIC ATRESIA; EBS5C PubMed Lucky ...
    https://medlineplus.gov/...pidermolysis-bullosa-with-pyloric-atresia - Genetics
  2. ITGB4 gene 
    ... A, Smith N, Murrell DF. Differential expression of pyloric atresia in junctional epidermolysis bullosa with ITGB4 mutations suggests that pyloric atresia is ...
    https://medlineplus.gov/genetics/gene/itgb4 - Genetics
  3. ITGA6 gene 
    ... the ITGA6 gene have been found to cause epidermolysis bullosa with pyloric atresia (EB-PA). In addition to skin blistering, people ... in the propeller domain results in severe junctional epidermolysis bullosa with pyloric atresia. J Invest Dermatol. 2003 Dec;121(6):1336- ...
    https://medlineplus.gov/genetics/gene/itga6 - Genetics
  4. Junctional epidermolysis bullosa 
    ... Sadamoto M, Sasaki T, Kubo A, Ishiko A. Junctional epidermolysis bullosa without pyloric atresia due to a homozygous missense mutation in ITGB4. J Dermatol. 2019 Feb;46(2):e61-e63. doi: 10.1111/1346-8138.14591. Epub 2018 Aug 6. No abstract available. Citation on PubMed
    https://medlineplus.gov/.../junctional-epidermolysis-bullosa - Genetics
  5. PLEC gene 
    ... nine mutations in the PLEC gene can cause epidermolysis bullosa with pyloric atresia (EB-PA). In addition to skin blistering, people ...
    https://medlineplus.gov/genetics/gene/plec - Genetics