SHOX, short stature homeobox, 6473

N. diseases: 138; N. variants: 16
Disease: Lowry Wood syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0796021
Disease: Lowry Wood syndrome
Lowry Wood syndrome 		0.050 GeneticVariation disease BEFREE The majority of SHOX-D patients with LWS had either a deletion encompassing SHOX or a point mutation (69%), whereas 59% of those with ISS had a deletion downstream of SHOX in the enhancer region. 22518848 2012
CUI: C0796021
Disease: Lowry Wood syndrome
Lowry Wood syndrome 		0.050 GeneticVariation disease BEFREE Although the majority of patients with LWS in this study have SHOX gene haploinsufficiency, there are some patients with both copies of the SHOX gene intact with absence of any point mutations in the coding region. 16319696 2005
CUI: C0796021
Disease: Lowry Wood syndrome
Lowry Wood syndrome 		0.050 GeneticVariation disease BEFREE The effect of 24 months of recombinant human growth hormone (rhGH) therapy on the stature and BMD of two females with SHOX haploinsufficiency (demonstrated by fluorescence in situ hybridisation) and LWS was evaluated. 14513876 2003
CUI: C0796021
Disease: Lowry Wood syndrome
Lowry Wood syndrome 		0.050 GeneticVariation disease BEFREE Since C-terminally truncated forms of SHOX lead to LWS and idiopathic short stature, we have compared the activity of wild-type and truncated SHOX proteins. 11751690 2001
CUI: C0796021
Disease: Lowry Wood syndrome
Lowry Wood syndrome 		0.050 GeneticVariation disease BEFREE We did not detect SHOX mutations in almost half (41%) the LWS families studied, which suggests different genetic etiologies. 10713888 2000