High frequency of heterozygous rare variants of the SLC34A1 and SLC9A3R1 genes in patients with atypical femur fracture.

Francesca MariniFrancesca GiustiElena MarascoLuciano XumerleKatarzyna Malgorzata KwiatkowskaPaolo GaragnaniEmmanuel Biver Serge Livio FerrariGiovanni IolasconTeresa IantomasiMaria Luisa Brandi

Published in: European journal of endocrinology (2023)

Our findings suggest that rarevariants of SLC34A1 and SLC9A3R1 could represent a possible genetic risk factor for the occurrence of AFFs. On the other hand, AFFs could represent an unsuspected clinical manifestation and/or an anti-resorption therapycorrelatedadverse event in patients with NPHLOP disorders.

Keyphrases

high frequency
transcranial magnetic stimulation
genome wide
copy number
risk assessment
early onset
bone mineral density
hip fracture
finite element