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Monoallelic and biallelic CREB3L1 variant causes mild and severe osteogenesis imperfecta, respectively.
Genet Med. 2018 Apr;20(4):411-419. doi: 10.1038/gim.2017.115. Epub 2017 Aug 17.
Genet Med. 2018.
PMID: 28817112
Free PMC article.
Biallelic variants in MESD, which encodes a WNT-signaling-related protein, in four new families with recessively inherited osteogenesis imperfecta.
Tran TT, Keller RB, Guillemyn B, Pepin M, Corteville JE, Khatib S, Fallah MS, Zeinali S, Malfait F, Symoens S, Coucke P, Witters P, Levtchenko E, Bagherian H, Nickerson DA, Bamshad MJ, Chong JX; University of Washington Center for Mendelian Genomics; Byers PH.
Tran TT, et al.
HGG Adv. 2021 Aug 20;2(4):100051. doi: 10.1016/j.xhgg.2021.100051. eCollection 2021 Oct 14.
HGG Adv. 2021.
PMID: 35047842
Free PMC article.
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