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
Differential expression of pyloric atresia in junctional epidermolysis bullosa with ITGB4 mutations suggests that pyloric atresia is due to factors other than the mutations and not predictive of a poor outcome: three novel mutations and a review of the literature.
Dang N et al.
Acta Dermato-venereologica, 2008
Prenatal findings in epidermolysis bullosa with pyloric atresia in a family not known to be at risk.
De Jenlis Sicot B et al.
Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology, 2005
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