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
{{output}}
Epidermolysis bullosa (EB) is a genetically heterogeneous skin fragility disorder. Some subtypes also involve other organs, including the pulmonary, gastrointestinal, and renal systems. One severe form, junctional epidermolysis bullosa (JEB), is characterized ... ...
