WWOX, WW domain containing oxidoreductase, 51741

N. diseases: 356; N. variants: 58
Disease: Smith-Magenis syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0795864
Disease: Smith-Magenis syndrome
Smith-Magenis syndrome 		0.010 GeneticVariation disease BEFREE In 4 patients with impaired language abilities we found the presence of microduplication in the region 16q23.1 affecting two dose-sensitive genes: WWOX (OMIM 605131) and MAF (OMIM 177075) (1 case), an interstitial deletion of the 17p11.2 region (2 patients further diagnosed as Smith-Magenis syndrome), and deletion encompassing first three exons of Myocyte Enhancer Factor gene 2MEF2C (1 case). 24949445 2014