Author/Editor | Kansky, A; Tomić, S | |
Title | Advances in genetics of interest to dermatologists: part I | |
Type | članek | |
Source | Acta Dermatovenerol Alp Panon Adriat | |
Vol. and No. | Letnik 1, št. 1 | |
Publication year | 1992 | |
Volume | str. 20-6 | |
Language | eng | |
Abstract | The rapid expansion of recombinant DNA technology have made it possible to understand the essential molecular pathology in a number of diseases. For certain genodermatoses defective genes related to clinical phenotype are relatively good investigated: localization on chromosomes, as well as certain products of these genes. The following disorders are reviewed: epidermolysis bullosa hereditaria simplex, ichthyoses, epidermolysis bullosa heraditaria dystrophica, cutis hyperalastica, albinism, piebaldism, xeroderma pigmentosum, incontinentia pigmenti and neurofibromatosis. Although the laboratory achievements in molecular biology do not at present offer therapeutical solutions for clinical problems, a practical application semens probable in the future. | |
Descriptors | SKIN DISEASES KERATOSIS ALBINISM EPIDERMOLYSIS BULLOSA DYSTROPHICA EHLERS-DANLOS SYNDROME PIGMENTATION DISORDERS NEUROFIBROMATOSIS 1 |