Epidermolysis Bullosa with Pyloric Atresia and Aplasia Cutis in a Newborn Due to Homozygous Mutation in ITGB4-Reference-Cited by-同舟云学术

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Epidermolysis Bullosa with Pyloric Atresia and Aplasia Cutis in a Newborn Due to Homozygous Mutation in ITGB4

Published:2017-05-30 Issue:4 Volume:36 Page:332-339
ISSN:1551-3815
Container-title:Fetal and Pediatric Pathology
language:en
Short-container-title:Fetal and Pediatric Pathology

Author:

Kayki Gozdem¹,Bozkaya Davut²,Ozaltin Fatih³^ORCID,Orhan Diclehan³,Kaymaz Figen⁴,Korkmaz Emine⁵,Yigit Sule²

Affiliation:

1. Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey

2. Division of Neonatology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey

3. Department of Pediatric Nephrology, Nephrogenetics Laboratory, Center for Biobanking and Genomics, Hacettepe University, Ankara, Turkey

4. Department of Histology, Hacettepe University Faculty of Medicine, Ankara, Turkey

5. Nephrogenetics Laboratory, Hacettepe University Faculty of Medicine, Sihhiye, Ankara, Turkey

Publisher

Informa UK Limited

Subject

General Medicine,Pathology and Forensic Medicine,Pediatrics, Perinatology and Child Health

Link

https://www.tandfonline.com/doi/pdf/10.1080/15513815.2017.1324545

Reference23 articles.

1. Epidermolysis Bullosa with Pyloric Atresia

2. Epidermolysis bullosa, pyloric atresia, aplasia cutis congenita: Histopathological delineation of an autosomal recessive disease

3. Deletion of the first pair of fibronectin type III repeats of the integrin β-4 gene is associated with epidermolysis bullosa, pyloric atresia and aplasia cutis congenita in the original Carmi syndrome patients

4. Aplasia cutis congenita in two sibs discordant for pylori atresia

5. The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB

Cited by 10 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Amino Acid Substitution in the Cysteine-Rich Region of the Integrin β4 Subunit Causes Late-Onset Mild Junctional Epidermolysis Bullosa without Extracutaneous Involvement;Journal of Investigative Dermatology;2023-11

2. Epidermolysis Bullosa With Pyloric Stenosis: A Novel Lethal Variant;Cureus;2023-06-30

3. Case report: A case of epidermolysis bullosa complicated with pyloric atresia and a literature review;Frontiers in Pediatrics;2023-03-23

4. Intestinal Failure in Junctional Epidermolysis Bullosa: Mild Skin Disease, Severe Diarrhea;Digestive Diseases and Sciences;2022-02-11

5. Epidermolysis bullosa with congenital absence of skin: Review of the literature;Pediatric Dermatology;2020-07-20

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