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Article

Identification of rare genetic variants in familial forms and unrelated cases of bisphosphonates-associated atypical femur fracture.

Joint bone spine - 1 Mar 2026

Michou Laëtitia, Brown Jacques P, Champagne Laurie, Vallée Maxime, Fournier Frédéric, Gagnon Edith, Droit Arnaud, Morin Suzanne N

Abstract excerpt

OBJECTIVES: We performed next generation sequencing in two affected-sibling pairs of atypical femur fractures (AFF) and in unrelated cases of AFF to identify genetic variants of bisphosphonates (BP)-associated AFF. METHODS: A whole exome sequencing (WES) was performed in two sisters with BP-associated AFF and their healthy brother naïve to BP treatment (family A). After bioinformatic filtering, the intrafamilial...

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Identifiers

PMID: 41135865
DOI: 10.1016/j.jbspin.2025.105994

Genes

COL1A2
FDFT1
WNT1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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