Pyloric atresia-junctional epidermolysis bullosa syndrome showing novel c.4505-4508insACTC mutations in integrin b4 gene (ITGB4)
Epidermolysis bullosa (EB) is a group of inherited blistering skin diseases that vary widely in their pathogenesis and severity. It has been divided into distinct subtypes depending on the level of tissue separation in the dermal- epidermal basement membrane zone. There are four main categori...
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| Format: | Article |
| Language: | English |
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Hacettepe University Institute of Child Health
2015-08-01
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| Series: | The Turkish Journal of Pediatrics |
| Online Access: | https://turkjpediatr.org/article/view/1255 |
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| author | Mehmet Mutlu Ersan Kalay Beril Dilber Yakup Aslan Embiya Dilber Nour Almaani John A Mcgrath |
| author_facet | Mehmet Mutlu Ersan Kalay Beril Dilber Yakup Aslan Embiya Dilber Nour Almaani John A Mcgrath |
| author_sort | Mehmet Mutlu |
| collection | DOAJ |
| description |
Epidermolysis bullosa (EB) is a group of inherited blistering skin diseases that vary widely in their pathogenesis and severity. It has been divided into distinct subtypes depending on the level of tissue separation in the dermal- epidermal basement membrane zone. 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 blisters and gastric outlet obstruction. Most of the mutations in JEP-PA are associated with the α6β4 integrin genes (ITGA6, ITGB4,). Herein, we present a female newborn with lethal JEB-PA caused by a novel beta4 integrin mutation.
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| format | Article |
| id | doaj-art-2828faab41b648548b84844052eb17e5 |
| institution | DOAJ |
| issn | 0041-4301 2791-6421 |
| language | English |
| publishDate | 2015-08-01 |
| publisher | Hacettepe University Institute of Child Health |
| record_format | Article |
| series | The Turkish Journal of Pediatrics |
| spelling | doaj-art-2828faab41b648548b84844052eb17e52025-08-20T03:00:54ZengHacettepe University Institute of Child HealthThe Turkish Journal of Pediatrics0041-43012791-64212015-08-01574Pyloric atresia-junctional epidermolysis bullosa syndrome showing novel c.4505-4508insACTC mutations in integrin b4 gene (ITGB4)Mehmet Mutlu0Ersan KalayBeril DilberYakup AslanEmbiya DilberNour AlmaaniJohn A McgrathDivision of Neonatology, Karadeniz Technical University Faculty of Medicine, Trabzon, Turkey. drmehmetmutlu38@hotmail.com. Epidermolysis bullosa (EB) is a group of inherited blistering skin diseases that vary widely in their pathogenesis and severity. It has been divided into distinct subtypes depending on the level of tissue separation in the dermal- epidermal basement membrane zone. 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 blisters and gastric outlet obstruction. Most of the mutations in JEP-PA are associated with the α6β4 integrin genes (ITGA6, ITGB4,). Herein, we present a female newborn with lethal JEB-PA caused by a novel beta4 integrin mutation. https://turkjpediatr.org/article/view/1255 |
| spellingShingle | Mehmet Mutlu Ersan Kalay Beril Dilber Yakup Aslan Embiya Dilber Nour Almaani John A Mcgrath Pyloric atresia-junctional epidermolysis bullosa syndrome showing novel c.4505-4508insACTC mutations in integrin b4 gene (ITGB4) The Turkish Journal of Pediatrics |
| title | Pyloric atresia-junctional epidermolysis bullosa syndrome showing novel c.4505-4508insACTC mutations in integrin b4 gene (ITGB4) |
| title_full | Pyloric atresia-junctional epidermolysis bullosa syndrome showing novel c.4505-4508insACTC mutations in integrin b4 gene (ITGB4) |
| title_fullStr | Pyloric atresia-junctional epidermolysis bullosa syndrome showing novel c.4505-4508insACTC mutations in integrin b4 gene (ITGB4) |
| title_full_unstemmed | Pyloric atresia-junctional epidermolysis bullosa syndrome showing novel c.4505-4508insACTC mutations in integrin b4 gene (ITGB4) |
| title_short | Pyloric atresia-junctional epidermolysis bullosa syndrome showing novel c.4505-4508insACTC mutations in integrin b4 gene (ITGB4) |
| title_sort | pyloric atresia junctional epidermolysis bullosa syndrome showing novel c 4505 4508insactc mutations in integrin b4 gene itgb4 |
| url | https://turkjpediatr.org/article/view/1255 |
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