Associated Papers
A novel bladder phenotype in junctional epidermolysis bullosa: a case report.
He Q et al.
Frontiers in Pediatrics, 2025
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
Background splicing as a predictor of aberrant splicing in genetic disease.
Alexieva D et al.
Rna Biology, 2022
35188075 (PubMed )
Supplement: KRNB_A_2024031_SM7960.zip › Supplementary_information › Table_S2_css.xlsx › Table_S2_DBASS5_index
Identification of novel compound heterozygous ITGB4 mutations in a Chinese woman with junctional epidermolysis bullosa without pylori atresia but profound urinary symptoms: A case report and review of the literature.
Zhou X et al.
The Journal of Dermatology, 2021
Epidermolysis Bullosa in Chinese Patients: Genetic Analysis and Mutation Landscape in 57 Pedigrees and Sporadic Cases.
Yu Y et al.
Acta Dermato-venereologica, 2021
Novel missense p.R252L mutation of ITGB4 compounded with known 3793+1G>A mutation associated with nonlethal epidermolysis bullosa-pyloric atresia with obstructive uropathy.
Ellis C et al.
Jaad Case Reports, 2021
Transposon clusters as substrates for aberrant splice-site activation.
Alvarez MEV et al.
Rna Biology, 2021
32965162 (PubMed )
Supplement: KRNB_A_1805909_SM0818.zip › Supplementary_information › Supplementary_Table_S1.pdf
Genotype-phenotype correlations on epidermolysis bullosa with congenital absence of skin: A comprehensive review.
Mariath LM et al.
Clinical Genetics, 2021
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
31802016 (PubMed )
Supplement: 41586_2019_1793_MOESM3_ESM.xlsx › S4b_-_Disease_Var
Epidermolysis Bullosa with Pyloric Atresia and Aplasia Cutis in a Newborn Due to Homozygous Mutation in ITGB4.
Kayki G et al.
Fetal and Pediatric Pathology, 2017
ITGB4-associated junctional epidermolysis bullosa without pylori atresia but profound genito-urinary involvement.
Lee M et al.
Acta Dermato-venereologica, 2015
Long-term follow-up of a spontaneously improving patient with junctional epidermolysis bullosa associated with ITGB4 c.3977-19T>A splicing mutation.
Diociaiuti A et al.
Acta Dermato-venereologica, 2013
Epidermolysis bullosa with congenital pyloric atresia: novel mutations in the beta 4 integrin gene (ITGB4) and genotype/phenotype correlations.
Nakano A et al.
Pediatric Research, 2001
Alpha 6 beta 4 integrin abnormalities in junctional epidermolysis bullosa with pyloric atresia.
Ashton GH et al.
The British Journal of Dermatology, 2001
Novel ITGB4 mutations in lethal and nonlethal variants of epidermolysis bullosa with pyloric atresia: missense versus nonsense.
Pulkkinen L et al.
American Journal of Human Genetics, 1998
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