SHOX, short stature homeobox, 6473

N. diseases: 138; N. variants: 16
Disease: Timothy syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1832916
Disease: Timothy syndrome
Timothy syndrome 		0.010 Biomarker disease BEFREE We investigated the relationship between SHOX mutations, height deficit, and Madelung deformity to determine the contribution of SHOX haploinsufficiency to the LWD and Turner syndrome (TS) phenotypes. 11739418 2001