Autosomal recessive inheritance of a novel missense mutation of ITGB4 for Epidermolysis-Bullosa pyloric-atresia: a case report
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics,Molecular Biology,General Medicine
Link
https://link.springer.com/content/pdf/10.1007/s00438-022-01941-y.pdf
Reference25 articles.
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3. Bart BJ, Gorlin RJ, Anderson VE, Lynch FW (1966) Congenital localized absence of skin and associated abnormalities resembling Epidermolysis Bullosa: a new syndrome. Arch Dermatol 93:296–304. https://doi.org/10.1001/archderm.1966.01600210032005
4. Borradori L, Sonnenberg A (1999) Structure and function of hemidesmosomes: more than simple adhesion complexes. J Invest Dermatol 112:411–418. https://doi.org/10.1046/j.1523-1747.1999.00546.x
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