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
Genotype-phenotype correlations on epidermolysis bullosa with congenital absence of skin: A comprehensive review.
Mariath LM et al.
Clinical Genetics, 2021
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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