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
Investigation of cryptic JAG1 splice variants as a cause of Alagille syndrome and performance evaluation of splice predictor tools.
Keefer-Jacques E et al.
Hgg Advances, 2024
39244638 (PubMed )
Supplement: mmc3.pdf
Identification of 36 novel Jagged1 (JAG1) mutations in patients with Alagille syndrome.
Röpke A et al.
Human Mutation, 2003
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