Skin Diseases, Genetic

Known as: Genetic Skin Diseases, Genetic Skin Disease, Disease, Genetic Skin 
Diseases of the skin with a genetic component, usually the result of various inborn errors of metabolism.

Topic mentions per year

Topic mentions per year

1959-2018
05019592018

Papers overview

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2011
2011
Recessive dystrophic epidermolysis bullosa (RDEB) is an inherited blistering skin disorder caused by mutations in the COL7A1 gene… (More)
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2011
2011
Hypohidrotic and anhidrotic ectodermal dysplasia (HED/EDA) is a rare genodermatosis characterized by abnormal development of… (More)
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Highly Cited
2006
Highly Cited
2006
Dowling-Degos disease (DDD) is an autosomal dominant genodermatosis characterized by progressive and disfiguring reticulate… (More)
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Highly Cited
2005
Highly Cited
2005
The Birt-Hogg-Dubé (BHD) syndrome is an inherited genodermatosis characterized by a predisposition to hamartomatous skin lesions… (More)
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Highly Cited
2003
Highly Cited
2003
Dyschromatosis symmetrica hereditaria (DSH) (also called "reticulate acropigmentation of Dohi") is a pigmentary genodermatosis of… (More)
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Highly Cited
2002
Highly Cited
2002
Birt-Hogg-Dubé (BHD) syndrome is a rare inherited genodermatosis characterized by hair follicle hamartomas, kidney tumors, and… (More)
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1997
1997
The skin is an accessible somatic tissue for therapeutic gene transfer and, depending on therapeutic goals, a variety of… (More)
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Highly Cited
1991
Highly Cited
1991
To explore the relationship between keratin gene mutations and genetic disease, we made transgenic mice expressing a mutant… (More)
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1987
1987
A monoclonal antibody, GB3, has been raised against human amnion. Not only does GB3 bind to amniotic basement membrane, but it… (More)
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Highly Cited
1986
Highly Cited
1986
An analysis of the findings in 21 patients with the Cowden syndrome or the multiple hamartoma syndrome is presented. The Cowden… (More)
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