Article
The human SHOX mutation database.
Human mutation - 1 Nov 2002
Niesler Beate, Fischer Christine, Rappold Gudrun A
Abstract excerpt
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...
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