Compound Heterozygous Mutations with a Novel Variant in Integrin Beta4 Cause Epidermolysis Bullosa with Pyloric Atresia and Urologic Abnormalities
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DOI: 10.3349/ymj.2020.61.9.831
Abstract: www.eymj.org To the Editor, Epidermolysis bullosa (EB) with pyloric atresia (PA) is an autosomal recessive form of EB subtype that affects the skin, as well as digestive and frequently urogenital tracts. EB-PA is classified as… read more here.
Keywords: integrin; epidermolysis bullosa; urologic abnormalities; compound heterozygous ... See more keywords