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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.
National Institutes of Health

Papers overview

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Highly Cited
2010
Highly Cited
2010
Netherton syndrome (NS) is a severe genodermatosis characterized by abnormal scaling and constant atopic manifestations. NS is… Expand
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Review
2009
Review
2009
Kidney cancer is not a single disease; it is comprised of several different types of cancer, each with a different histology… Expand
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Highly Cited
2007
Highly Cited
2007
RATIONALE Birt-Hogg-Dubé syndrome (BHDS) is an autosomal, dominantly inherited genodermatosis that predisposes to… Expand
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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… Expand
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Highly Cited
2002
Highly Cited
2002
The Birt-Hogg-Dubé syndrome, a genodermatosis characterized by benign tumors of the hair follicle, has been associated with renal… Expand
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Highly Cited
1999
Highly Cited
1999
Recently, hptc, a human gene homologous to the Drosophila segment polarity gene patched (ptc), has been implicated in the nevoid… Expand
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Highly Cited
1994
Highly Cited
1994
Netherton's syndrome is a rare genodermatosis of unknown cause, which is classified as an ichthyosiform syndrome. A clinical and… Expand
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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… Expand
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Highly Cited
1987
Highly Cited
1987
A monoclonal antibody, GB3, has been raised against human amnion. Not only does GB3 bind to amniotic basement membrane, but it… Expand
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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… Expand
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