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Progeria: A cell culture study and clinical report of familial incidence

Authors :
Thomas Rautenstrauch
Friedemann Snigula
Thomas Krieg
Steffen Gay
P. K. M�ller
Source :
European Journal of Pediatrics. 124:101-111
Publication Year :
1977
Publisher :
Springer Science and Business Media LLC, 1977.

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.

Details

ISSN :
14321076 and 03406997
Volume :
124
Database :
OpenAIRE
Journal :
European Journal of Pediatrics
Accession number :
edsair.doi.dedup.....fb428cfed440fef55ebf28b1829f6b1f
Full Text :
https://doi.org/10.1007/bf00477545