junctional epidermolysis bullosa with pyloric atresia相关文献:
Epidermolysis Bullosa with Pyloric Atresia.
Lucky AW, Gorell E.
2008 Feb 22 [updated 2023 Jan 26]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025.
PMID:20301336
Epidermolysis bullosa with pyloric atresia: Report of two cases in consecutive siblings.
Márquez K, Rodríguez DA, Pérez LA, Duarte M, Zárate LA.
Biomedica. 2021 Jun 29;41(2):201-207. doi: 10.7705/biomedica.5401.
PMID:34214260
Pyloric Atresia Associated With Epidermolysis Bullosa- A Case Report.
Saleem A, Khan AM, Ahmed M.
J Ayub Med Coll Abbottabad. 2024 Oct-Dec;36(4):838-840. doi: 10.55519/JAMC-04-13593.
PMID:40121655
Epidermolysis bullosa with pyloric atresia associated with compound heterozygous ITGB4 pathogenic variants: Minimal skin involvement but severe mucocutaneous disease.
Wee LWY, Tan EC, Bishnoi P, Ng YZ, Lunny DP, Lim HW, Lee SP, Ong C, Yap TL, Mok YH, Low MY, Chu-Tian Chow C, Derrick L, Common JEA, Birgitte Lane E, Koh MJA.
Pediatr Dermatol. 2021 Jul;38(4):908-912. doi: 10.1111/pde.14668. Epub 2021 Jun 21.
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 literature.
Dang N, Klingberg S, Rubin AI, Edwards M, Borelli S, Relic J, Marr P, Tran K, Turner A, Smith N, Murrell DF.