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Pyloric atresia-junctional epidermolysis bullosa syndrome showing novel c.4505-4508insACTC mutations in integrin b4 gene (ITGB4).
Mutlu M, Kalay E, Dilber B, Aslan Y, Dilber E, Almaani N, McGrath JA. Mutlu M, et al. Turk J Pediatr. 2015 Jul-Aug;57(4):385-387. Turk J Pediatr. 2015. PMID: 27186702
There are four main categories of EB: simplex, junctional, dystrophic and Kindler syndrome. Junctional epidermolysis bullosa with pyloric atresia (JEB-PA) is a rare autosomal recessive form and characterized by severe mucocutaneous bliste …
There are four main categories of EB: simplex, junctional, dystrophic and Kindler syndrome. Junctional epidermolysis bullos …
Novel and recurrent mutations in the integrin beta 4 subunit gene causing lethal junctional epidermolysis bullosa with pyloric atresia.
Iacovacci S, Cicuzza S, Odorisio T, Silvestri E, Kayserili H, Zambruno G, Puddu P, D'Alessio M. Iacovacci S, et al. Exp Dermatol. 2003 Oct;12(5):716-20. doi: 10.1034/j.1600-0625.2003.00052.x. Exp Dermatol. 2003. PMID: 14705814
In this study we examined two unrelated patients affected with the lethal variant of junctional epidermolysis bullosa with pyloric atresia (PA-JEB) who were found to carry mutations in the integrin beta4 subunit gene (ITGB4). ...
In this study we examined two unrelated patients affected with the lethal variant of junctional epidermolysis bullosa …
Prenatal diagnosis of pyloric atresia-junctional epidermolysis bullosa syndrome in a fetus not known to be at risk.
Lépinard C, Descamps P, Meneguzzi G, Blanchet-Bardon C, Germain DP, Larget-Piet L, Beringue F, Berchel C, Muller F, Dumez Y. Lépinard C, et al. Prenat Diagn. 2000 Jan;20(1):70-5. doi: 10.1002/(sici)1097-0223(200001)20:1<70::aid-pd747>3.0.co;2-e. Prenat Diagn. 2000. PMID: 10701857
Junctional epidermolysis bullosa with pyloric atresia (PA-JEB) is a highly lethal, inherited, autosomal recessive disease. ...
Junctional epidermolysis bullosa with pyloric atresia (PA-JEB) is a highly lethal, inherited, auto …
Hemidesmosomes show abnormal association with the keratin filament network in junctional forms of epidermolysis bullosa.
McMillan JR, McGrath JA, Tidman MJ, Eady RA. McMillan JR, et al. J Invest Dermatol. 1998 Feb;110(2):132-7. doi: 10.1046/j.1523-1747.1998.00102.x. J Invest Dermatol. 1998. PMID: 9457907 Free article.

In Herlitz junctional epidermolysis bullosa (laminin 5 abnormalities, n = 4) these values were reduced to 45.3% +/- 11.5 (p < 0.001; analysis of variance) and 50.3% +/- 12.8 (p < 0.001), respectively. In junctional epidermolysis bullosa with p

…

In Herlitz junctional epidermolysis bullosa (laminin 5 abnormalities, n = 4) these values were reduced to 45.3% +/- 11.5 (p < 0.001; anal

…
Alpha 6 beta 4 integrin abnormalities in junctional epidermolysis bullosa with pyloric atresia.
Ashton GH, Sorelli P, Mellerio JE, Keane FM, Eady RA, McGrath JA. Ashton GH, et al. Br J Dermatol. 2001 Feb;144(2):408-14. doi: 10.1046/j.1365-2133.2001.04038.x. Br J Dermatol. 2001. PMID: 11251584
Junctional epidermolysis bullosa with pyloric atresia (JEB-PA) (MIM 226730) is an autosomal recessive disorder resulting from mutations in the genes encoding alpha 6 beta 4 integrin (ITGA6 and ITGB4). ...
Junctional epidermolysis bullosa with pyloric atresia (JEB-PA) (MIM 226730) is an autosomal recess …
A homozygous mutation in the integrin alpha6 gene in junctional epidermolysis bullosa with pyloric atresia.
Ruzzi L, Gagnoux-Palacios L, Pinola M, Belli S, Meneguzzi G, D'Alessio M, Zambruno G. Ruzzi L, et al. J Clin Invest. 1997 Jun 15;99(12):2826-31. doi: 10.1172/JCI119474. J Clin Invest. 1997. PMID: 9185503 Free PMC article.
These anchoring structures are ultrastructurally abnormal in patients affected with junctional epidermolysis bullosa with pyloric atresia (PA-JEB), a recessively inherited blistering disease of skin and mucosae characterized by an altered …
These anchoring structures are ultrastructurally abnormal in patients affected with junctional epidermolysis bullosa …