Associated Papers
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
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
Phenotypic spectrum of epidermolysis bullosa associated with α6β4 integrin mutations.
Schumann H et al.
The British Journal of Dermatology, 2013
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