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Gene pinpointed for majority of achondroplasia cases
Researchers at University of California Irvine locate FGFR3 as the defective gene causing dwarfism in about a third of achondroplasia cases. The finding, reported in Cell, enables a rapid DNA test for fetal screening and informs risk for parents with the disorder.
MENTIONED IN THIS ARTICLE
Los Angeles
University of California, Irvine
John Wasmuth
UCI College of Medicine
Cell
Wasmuth
Francis Collins
National Center For Human Genome Research
Bethesda
Hereditary Disease Foundation
National Institutes of Health
National Institute of Neurologic Disease and Stroke