Article
The Contribution of Deleterious Rare Alleles in ENPP1 and Osteomalacia Causative Genes to Atypical Femoral Fracture.
The Journal of clinical endocrinology and metabolism - 19 Apr 2022
Furukawa Hiroshi, Oka Shomi, Kondo Naoki, Nakagawa Yasuaki, Shiota Naofumi, Kumagai Kenji, Ando Keiji, Takeshita Tsutao, Oda Takenori, Takahashi Yoshinori, Izawa Kazutaka, Iwasaki Yoichi, Hasegawa Kazuhiro, Arino Hiroshi, Minamizaki Takeshi, Yoshikawa Norie, Takata Shinjiro, Yoshihara Yasuo, Tohma Shigeto
Abstract excerpt
CONTEXT: Atypical femoral fractures (AFFs) are very rare atraumatic or mild trauma fractures in the subtrochanteric region or femoral shaft. Some unique genetic variants in Asian populations might confer susceptibility to AFF, since the incidence of AFFs is higher in Asian populations. OBJECTIVE: Because rare variants have been found to be causative in some diseases and the roles of osteomalacia causative genes...
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