SHOX, short stature homeobox, 6473

N. diseases: 138; N. variants: 16
Disease: Mesomelic dysplasia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0410536
Disease: Mesomelic dysplasia
Mesomelic dysplasia 		0.010 Biomarker disease BEFREE SHOX haplo-insufficiency is considered the molecular basis of short stature in patients with Turner's syndrome, and gives rise to the short stature with mesomelic dysplasia and Madelung deformity of patients with Leri-Weill syndrome. 11874178 2002