SHOX gene homepage
||short stature homeobox|
||p22.33 and Yp11.32|
||NM_000451.3 exon/intron table, NM_006883.2 exon/intron table|
|Associated with diseases
||ISS, LMD, LWD|
||Genomic reference sequence|
||Gudrun Rappold and Ralph Roeth|
|Total number of public variants reported
|Unique public DNA variants reported
|Individuals with public variants
||This gene belongs to the paired homeobox family and is located in the pseudoautosomal region 1 (PAR1) of X and Y chromosomes (Xp22.33 and Yp11.32).|
Diagnostic testing: Molecular diagnostics for the SHOX gene is carried out by Esoterix/Labcorp for North America and Bioscientia for Europe.
Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
||March 06, 2009|
|Date last updated
||June 10, 2020|
|Copyright & disclaimer|
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