Publication at Faculty of Science, First Faculty of Medicine |
2014
Abstract
Defects of the SHOX gene (short stature homeobox-containing gene) or its regulatory sequences have been obviously associated with Léri-Weill dyschondrosteosis, Langer syndrome, and idiopathic short stature. We have analysed an association of a small common ~4,9kb deletion (L05101), ~200kb downstream of SHOX gene nearby its known regulatory sequences.
We confirmed that this small PAR1 deletion represents a non-pathogenic polymorphism.