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Surgical Outcomes After Risk-Reducing Mastectomy Among BRCA1 and BRCA2 Carriers.

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Molecular advances in genetic skin diseases

Current Opinion in Pediatrics, 2002
The genes for several genetic skin diseases have been identified in recent years. This development improves diagnostic capabilities and genetic counseling, and investigators can now turn to the molecular mechanisms involved in the pathogenesis of these diseases.
Dawn H, Siegel, Renee, Howard
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Genetic skin diseases

Current Opinion in Pediatrics, 1994
Recent advances in molecular genetics have led to major breakthroughs in the understanding of two heterogeneous groups of inherited skin diseases, epidermolysis bullosa and the ichthyoses. Mutations in keratins K5 or K14 are found in epidermolysis bullosa simplex.
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What’s New in Genetic Skin Diseases

Dermatologic Clinics, 2019
The discoveries of new genes underlying genetic skin diseases have occurred at a rapid pace, supported by advances in DNA sequencing technologies. These discoveries have translated to an improved understanding of disease mechanisms at a molecular level and identified new therapeutic options based on molecular targets. This article highlights just a few
Callie R, Hill, Amy, Theos
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The genetics of human skin diseases

Current Opinion in Genetics & Development, 1996
Molecular genetic analyses during the past half-decade have brought unexpected insights into the molecular defects underlying a wide variety of abnormal skin phenotypes. Highlights of the efforts in the past year include the identification of mutations in an epidermal transglutaminase gene in lamellar ichthyosis as well as mutations in an additional ...
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