Integrin α3 mutation junctional epidermolysis bullosa presenting with hypotrichosis and lacrimal obstruction

Author:

Alshihry Hind,AlGhamdy Shahad D.,Alhashem Amal,Almohanna Hind M.

Publisher

Elsevier BV

Subject

Dermatology

Reference13 articles.

1. Integrin α3 mutations with kidney, lung, and skin disease;Has;N Engl J Med,2012

2. Gain of glycosylation in integrin α3 causes lung disease and nephrotic syndrome;Nicolaou;J Clin Invest,2012

3. Crucial role of posttranslational modifications of integrin α3 in interstitial lung disease and nephrotic syndrome;Yalcin;Hum Mol Genet,2015

4. Intronic ITGA3 mutation impacts splicing regulation and causes interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa;He;J Invest Dermatol,2016

5. Skin fragility, renal malformation and interstitial lung disease due to compound heterozygous ITGA3 mutations;Sondermann;J Deutsche Derma Gesell,2021

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