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The first family with adult osteogenesis imperfecta caused by a novel homozygous mutation in CREB3L1.
Mol Genet Genomic Med. 2019 Aug;7(8):e823. doi: 10.1002/mgg3.823. Epub 2019 Jun 17.
Mol Genet Genomic Med. 2019.
PMID: 31207160
Free PMC article.
A novel homozygous 5 bp deletion in FKBP10 causes clinically Bruck syndrome in an Indonesian patient.
Setijowati ED, van Dijk FS, Cobben JM, van Rijn RR, Sistermans EA, Faradz SM, Kawiyana S, Pals G.
Setijowati ED, et al.
Eur J Med Genet. 2012 Jan;55(1):17-21. doi: 10.1016/j.ejmg.2011.10.002. Epub 2011 Oct 24.
Eur J Med Genet. 2012.
PMID: 22085994
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