Associated Papers
Prenatal Identification of a Novel ITGB4 Gene Mutation Associated With Junctional Epidermolysis Bullosa: A Case Report.
Xu Q et al.
Clinical Case Reports, 2026
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 et al.
International Journal of Genomics, 2025
Case report: A case of epidermolysis bullosa complicated with pyloric atresia and a literature review.
Luo C et al.
Frontiers in Pediatrics, 2023
Epidermolysis Bullosa With Congenital Absence of Skin: Congenital Corneal Cloudiness and Esophagogastric Obstruction Including Extended Genotypic Spectrum of PLEC, LAMC2, ITGB4 and COL7A1.
Pongmee P et al.
Frontiers in Genetics, 2022
A successful case of preimplantation genetic testing for monogenic disorder for aplasia cutis congenita.
Yang XF et al.
Frontiers in Pediatrics, 2022
Epidermolysis bullosa with pyloric atresia associated with compound heterozygous ITGB4 pathogenic variants: Minimal skin involvement but severe mucocutaneous disease.
Wee LWY et al.
Pediatric Dermatology, 2021
[Application value of whole exome sequencing in critically ill neonates with inherited diseases].
Chen YL et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2020
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