Ontology highlight
ABSTRACT:
SUBMITTER: Dagoneau N
PROVIDER: S-EPMC1182109 | biostudies-literature | 2004 Nov
REPOSITORIES: biostudies-literature
Dagoneau Nathalie N Benoist-Lasselin Catherine C Huber Céline C Faivre Laurence L Mégarbané André A Alswaid Abdulrahman A Dollfus Hélène H Alembik Yves Y Munnich Arnold A Legeai-Mallet Laurence L Cormier-Daire Valérie V
American journal of human genetics 20040913 5
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 protease family, the gene encoding ADAMTS10, a disintegrin and metalloprotease with ...[more]