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
Junctional Epidermolysis Bullosa With Pyloric Atresia Complicated by Esophageal Atresia and Nephrotic Syndrome: A Case Report and Review of the Literature.
Sabharwal K, Blanchard I, Gorell ES, Iqneibi M, Lucky AW, Worhunsky DJ.
Pediatr Dermatol. 2025 Jul-Aug;42(4):849-854. doi: 10.1111/pde.15905. Epub 2025 Mar 3.
PMID:40033822
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.
PMID:34152038
Compound Heterozygous Null Variants in ITGB4 Gene Causing Severe Phenotype of Junctional Epidermolysis Bullosa With Pyloric Atresia in Thai Newborn: Genotype-Phenotype Correlation From a Case Report and Review of the Literature.
Klangjorhor J, Pomrop M, Thongkumkoon P, Moonsan N, Khiaomai R, Pasena A, Suksakit P, Pruksachatkun C, Tengsujaritkul M.
Int J Genomics. 2025 Sep 30;2025:2680052. doi: 10.1155/ijog/2680052. eCollection 2025.
PMID:41035785
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.