Article
ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome.
American journal of human genetics - 1 Nov 2004
Dagoneau Nathalie, Benoist-Lasselin Catherine, Huber Céline, Faivre Laurence, Mégarbané André, Alswaid Abdulrahman, Dollfus Hélène, Alembik Yves, Munnich Arnold, Legeai-Mallet Laurence, Cormier-Daire Valérie
Abstract excerpt
Weill-Marchesani syndrome (WMS) is characterized by the association of short stature; brachydactyly; joint stiffness; eye anomalies, including microspherophakia and ectopia of the lenses; and, occasionally, heart defects. We have recently mapped a gene for the autosomal recessive form of WMS to chromosome 19p13.3-p13.2, in a 12.4-cM interval. Here, we report null mutations in a member of the extracellular matrix...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.