Associated Papers
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
Clinical heterogeneity in epidermolysis bullosa simplex with plectin (PLEC) mutations-A study of six unrelated families from India.
Vishwanathan GB et al.
American Journal of Medical Genetics. Part A, 2022
Complete paternal isodisomy of chromosome 17 in junctional epidermolysis bullosa with pyloric atresia.
Natsuga K et al.
The Journal of Investigative Dermatology, 2010
Junctional Epidermolysis Bullosa With Pyloric Atresia Complicated by Esophageal Atresia and Nephrotic Syndrome: A Case Report and Review of the Literature.
Sabharwal K et al.
Pediatric Dermatology, 0
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