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Early-Onset Osteoporosis: Rare Monogenic Forms Elucidate the Complexity of Disease Pathogenesis Beyond Type I Collagen.
J Bone Miner Res. 2022 Sep;37(9):1623-1641. doi: 10.1002/jbmr.4668. Epub 2022 Sep 11.
J Bone Miner Res. 2022.
PMID: 35949115
Free PMC article.
Review.
Bi-allelic mutation in SEC16B alters collagen trafficking and increases ER stress.
El-Gazzar A, Voraberger B, Rauch F, Mairhofer M, Schmidt K, Guillemyn B, Mitulović G, Reiterer V, Haun M, Mayr MM, Mayr JA, Kimeswenger S, Drews O, Saraff V, Shaw N, Fratzl-Zelman N, Symoens S, Farhan H, Högler W.
El-Gazzar A, et al.
EMBO Mol Med. 2023 Apr 11;15(4):e16834. doi: 10.15252/emmm.202216834. Epub 2023 Mar 14.
EMBO Mol Med. 2023.
PMID: 36916446
Free PMC article.
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