Ontology highlight
ABSTRACT:
SUBMITTER: Smits P
PROVIDER: S-EPMC3108191 | biostudies-literature | 2010 Jan
REPOSITORIES: biostudies-literature
Smits Patrick P Bolton Andrew D AD Funari Vincent V Hong Minh M Boyden Eric D ED Lu Lei L Manning Danielle K DK Dwyer Noelle D ND Moran Jennifer L JL Prysak Mary M Merriman Barry B Nelson Stanley F SF Bonafé Luisa L Superti-Furga Andrea A Ikegawa Shiro S Krakow Deborah D Cohn Daniel H DH Kirchhausen Tom T Warman Matthew L ML Beier David R DR
The New England journal of medicine 20100101 3
<h4>Background</h4>Establishing the genetic basis of phenotypes such as skeletal dysplasia in model organisms can provide insights into biologic processes and their role in human disease.<h4>Methods</h4>We screened mutagenized mice and observed a neonatal lethal skeletal dysplasia with an autosomal recessive pattern of inheritance. Through genetic mapping and positional cloning, we identified the causative mutation.<h4>Results</h4>Affected mice had a nonsense mutation in the thyroid hormone rece ...[more]