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Beals syndrome: clinical and molecular investigations in a kindred of Indian descent.

Authors :
Viljoen D
Ramesar R
Behari D
Source :
Clinical genetics [Clin Genet] 1991 Mar; Vol. 39 (3), pp. 181-8.
Publication Year :
1991

Abstract

Eight members of a 3-generation kindred of Indian descent with congenital contractural arachnodactyly (Beals syndrome) have been appraised. Considerable variation was noted in the clinical features of affected persons, and the previously unreported associated finding of clubbing of the fingers and toes was evident in two individuals. The family was investigated using conventional serum and protein markers, and RFLP probes for type I and II collagen. No linkage in affected members could be demonstrated with type I collagen probes.

Details

Language :
English
ISSN :
0009-9163
Volume :
39
Issue :
3
Database :
MEDLINE
Journal :
Clinical genetics
Publication Type :
Academic Journal
Accession number :
1674682
Full Text :
https://doi.org/10.1111/j.1399-0004.1991.tb03009.x