Progeria: A cell culture study and clinical report of familial incidence
- 1 January 1977
- journal article
- research article
- Published by Springer Nature in European Journal of Nuclear Medicine and Molecular Imaging
- Vol. 124 (2) , 101-111
- https://doi.org/10.1007/bf00477545
Abstract
This report relates the case histories of two sisters who demonstrated the typical symptoms of progeria at birth. One of these children had died previous to this study. The familial occurrence underlines the thesis that progeria is an autosomal-recessive disorder. The examination of the cultured skin fibroblasts from the younger child showed a clear decrease in cell growth. On the other hand, the immunfluorescent examination of skin biopsies and cultured skin fibroblasts revealed no atypical distribution of collagen types.Keywords
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