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Journal article

Genetic study of atypical femoral fractures using exome sequencing in three affected sisters and three unrelated patients

Abstract:

Objectives: Atypical femoral fractures (AFF) are rare, often related to long-term bisphosphonate (BPs) treatment. Their pathogenic mechanisms are not precisely known and there is no evidence to identify patients with a high risk of AFF. The aim of this work is to study the genetic bases of AFFs. Material and methods: Whole-exome sequencing was carried out on 3 sisters and 3 unrelated additional patients, all treated with BPs for more than 5 years. Low frequency, potentially pathogenic variant...

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Publication status:
Published
Peer review status:
Peer reviewed

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Publisher:
Ibáñez and Plaza Asociados S.L
Journal:
Revista de Osteoporosis y Metabolismo Mineral More from this journal
Volume:
10
Issue:
4
Pages:
108-118
Publication date:
2018-12-01
Acceptance date:
2018-09-24
EISSN:
2173-2345
ISSN:
1889-836X
Keywords:
Pubs id:
pubs:971236
UUID:
uuid:fe3af01d-1b9b-4c20-a7ac-c65db314a56b
Local pid:
pubs:971236
Source identifiers:
971236
Deposit date:
2019-03-25

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