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A new type of chondrodysplasia punctata associated with peroxisomal dysfunction

โœ Scribed by B. T. Poll-The; P. Maroteaux; C. Narcy; P. Quetin; M. Guesnu; R. J. A. Wanders; R. B. H. Schutgens; J. M. Saudubray

Publisher
Springer
Year
1991
Tongue
English
Weight
227 KB
Volume
14
Category
Article
ISSN
0141-8955

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## Abstract Both dominantโ€negative and haploinsufficiency effects have been proposed in the pathogenesis of metaphyseal chondrodysplasia type Schmid (MCDS) due to nonsense and frameโ€shift mutations of __COL10A1__. This study examines these alternative effects. A proband with typical earlyโ€onset MCD