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
Case report: A case of epidermolysis bullosa complicated with pyloric atresia and a literature review.
Luo C et al.
Frontiers in Pediatrics, 2023
Genotype-phenotype correlations on epidermolysis bullosa with congenital absence of skin: A comprehensive review.
Mariath LM et al.
Clinical Genetics, 2021
[Junctional epidermolysis bullosa-pyloric atresia syndrome with extensive congenital aplasia cutis].
Rueda García RL et al.
Anales De Pediatria, 2020
A Nonlethal Case of Junctional Epidermolysis Bullosa and Congenital Pyloric Atresia: Compound Heterozygosity in a Patient with a Novel Integrin Beta 4 Gene Mutation.
Ko L et al.
The Journal of Pediatrics, 2018
Identification of two rare and novel large deletions in ITGB4 gene causing epidermolysis bullosa with pyloric atresia.
Mencía Á et al.
Experimental Dermatology, 2016
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