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The human SHOX mutation database

✍ Scribed by Beate Niesler; Christine Fischer; Gudrun A. Rappold

Publisher: John Wiley and Sons
Year: 2002
Tongue: English
Weight: 342 KB
Volume: 20
Category: Article
ISSN: 1059-7794
DOI: 10.1002/humu.10125

No coin nor oath required. For personal study only.

✦ Synopsis

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.

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