Ontology highlight
ABSTRACT:
SUBMITTER: Tsutsumi S
PROVIDER: S-EPMC1182089 | biostudies-literature | 2004 Jun
REPOSITORIES: biostudies-literature
American journal of human genetics 20040429 6
Gnathodiaphyseal dysplasia (GDD) is a rare skeletal syndrome characterized by bone fragility, sclerosis of tubular bones, and cemento-osseous lesions of the jawbone. By linkage analysis of a large Japanese family with GDD, we previously mapped the GDD locus to chromosome 11p14.3-15.1. In the critical region determined by recombination mapping, we identified a novel gene (GDD1) that encodes a 913-amino-acid protein containing eight putative transmembrane-spanning domains. Two missense mutations ( ...[more]