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Acromicric dysplasia: long term outcome and evidence of autosomal dominant inheritance

Authors :
Faivre, L.
Merrer, M. Le
Baumann, C.
Polak, M.
Chatelain, P.
Sulmont, V.
Cousin, J.
Bost, M.
Cordier, M. P.
Zackai, E.
Russell, K.
Finidori, G.
Pouliquen, J. C.
Munnich, A.
Maroteaux, P.
Cormier-Daire, V.
Source :
Journal of Medical Genetics. November 2001, Vol. 38 Issue 11, p745, 5 p.
Publication Year :
2001

Abstract

Acromicric dysplasia is a rare bone dysplasia characterised by short stature, short hands and feet, normal intelligence, mild facial dysmorphism, and characteristic x ray abnormalities of the hands. Only a [...]

Details

Language :
English
ISSN :
00222593
Volume :
38
Issue :
11
Database :
Gale General OneFile
Journal :
Journal of Medical Genetics
Publication Type :
Periodical
Accession number :
edsgcl.81466622