Ontology highlight
ABSTRACT:
SUBMITTER: Ferrari SL
PROVIDER: S-EPMC1181981 | biostudies-literature | 2004 May
REPOSITORIES: biostudies-literature
Ferrari Serge L SL Deutsch Samuel S Choudhury Urmila U Chevalley Thierry T Bonjour Jean-Philippe JP Dermitzakis Emmanouil T ET Rizzoli Rene R Antonarakis Stylianos E SE
American journal of human genetics 20040407 5
Stature, bone size, and bone mass are interrelated traits with high heritability, but the major genes that govern these phenotypes remain unknown. Independent genomewide quantitative-trait locus studies have suggested a locus for bone-mineral density and stature at chromosome 11q12-13, a region harboring the low-density lipoprotein receptor-related protein 5 (LRP5) gene. Mutations in the LRP5 gene were recently implicated in osteoporosis-pseudoglioma and "high-bone-mass" syndromes. To test wheth ...[more]