Title : Genetic Risk Factors for Atypical Femoral Fractures (AFFs): A Systematic Review.

Pub. Date : 2018 Jan

PMID : 30283886






1 Functional Relationships(s)
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1 A whole-exome sequencing study in 3 sisters with AFFs showed, among 37 shared genetic variants, a p.Asp188Tyr mutation in the GGPS1 gene in the mevalonate pathway, critical to osteoclast function, which is also inhibited by bisphosphonates. Diphosphonates geranylgeranyl diphosphate synthase 1 Homo sapiens