LIFR, LIF receptor subunit alpha, 3977

N. diseases: 198; N. variants: 14
Disease: Bent bone dysplasia group ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0457928
Disease: Bent bone dysplasia group
Bent bone dysplasia group 		0.010 GeneticVariation disease BEFREE The aim of this study is to review the clinical, radiological and molecular findings of the bent bone dysplasia group including Stüve-Wiedemann syndrome due to LIFR mutations, Compomelic dysplasia due to SOX9 mutations and Kyphomelic dysplasia with no known molecular bases. 15324311 2004