期刊
DERMATOLOGIC CLINICS
卷 28, 期 1, 页码 43-+出版社
W B SAUNDERS CO-ELSEVIER INC
DOI: 10.1016/j.det.2009.10.005
关键词
Epidermolysis bullosa; Heritable skin diseases; Blistering disorders; Molecular genetics
类别
资金
- US Department of Health and Human Services
- National Institutes of Health/National Institute of Arthritis and Musculoskeletal and Skin Diseases [P01 AR38923]
- Dermatology Foundation
- NATIONAL INSTITUTE OF ARTHRITIS AND MUSCULOSKELETAL AND SKIN DISEASES [P01AR038923] Funding Source: NIH RePORTER
Epidermolysis bullosa (EB) with pyloric atresia (PA) is a rare form of EB. This article describes the clinical and pathologic features and molecular genetics of EB-PA, the mutations in the alpha(6)beta(4) integrin and plectin genes that cause EB-PA, and the clinical implications of molecular genetics on EB-PA.
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