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PMID: 319005 Published · ppublish English Case Reports Journal Article

Progeria: a cell culture study and clinical report of familial incidence.

European journal of pediatrics ·Vol. 124 ·No. 2 ·1977-01-26 ·Pages 101-11

Rautenstrauch T, Snigula F

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.

MeSH Terms
Cells, Cultured Collagen Female Fibroblasts Fluorescent Antibody Technique Humans Infant Progeria/genetics,pathology Skin/analysis,pathology
Chemicals
Collagen
Authors & Affiliations
2 authors, click to expand affiliations / ORCID
Rautenstrauch T
Snigula F
References (27)
27 references, click to expand
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Article Info
Journal
European journal of pediatrics
Abbr.
Eur J Pediatr
ISSN
0340-6199
DOI
10.1007/BF00477545
Published
1977-01-26
Pages
101-11
Language
English
Region
Germany
NLM ID
7603873
Subset
IM
External Links
PubMed source DOI: 10.1007/BF00477545 View journal details
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