title: The human SHOX mutation database.
abstract: The human SHOX database has recently been established to provide clinicians and scientists access to a central source of information about all known SHOX mutations associated with short stature phenotypes such as idiopathic short stature, Lèri-Weill dyschondrosteosis, Langer syndrome, and Turner syndrome. So far, the database contains 29 unique intragenic mutations of the SHOX gene. These mutations were detected in a total of 39 patients from different families. Fourteen of these mutations have been found from the SHOX research group at the Institute of Human Genetics in Heidelberg, Germany; 25 mutations are from data reported in the literature. Not included in this database are complete SHOX gene deletions which represent the majority of all detectable SHOX mutations [Rappold et al., 2002]. The database is accessible via the website www.shox.uni-hd.de. It contains general information about the SHOX gene, and allows remote users to search the data and to submit new mutations to the database.
authors.affiliation: Institute of Human Genetics, University of Heidelberg, Heidelberg, Germany.
authors.forename: Beate
authors.initials: B
authors.lastname: Niesler
authors.forename: Christine
authors.initials: C
authors.lastname: Fischer
authors.forename: Gudrun A
authors.initials: GA
authors.lastname: Rappold
mesh_terms: D001483:Base Sequence; D030561:Databases, Nucleic Acid; D030342:Genetic Diseases, Inborn / Q000235:genetics; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D020407:Internet; D008969:Molecular Sequence Data; D009154:Mutation; D010641:Phenotype; D000074122:Short Stature Homeobox Protein; D012984:Software
chemical_list: D018398:Homeodomain Proteins; C106071:SHOX protein, human; D000074122:Short Stature Homeobox Protein