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Year | Number of Results |
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2020 | 1 |
2021 | 1 |
2022 | 1 |
2024 | 0 |
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Homozygous Loss-of-Function Mutations in CCDC134 Are Responsible for a Severe Form of Osteogenesis Imperfecta.
J Bone Miner Res. 2020 Aug;35(8):1470-1480. doi: 10.1002/jbmr.4011. Epub 2020 Apr 14.
J Bone Miner Res. 2020.
PMID: 32181939
Free article.
Fetal Fractures in an Infant with Maternal Ehlers-Danlos Syndrome, CCDC134 Pathogenic Mutation and a Negative Genetic Test for Osteogenesis Imperfecta.
Holick MF, Shirvani A, Charoenngam N.
Holick MF, et al.
Children (Basel). 2021 Jun 17;8(6):512. doi: 10.3390/children8060512.
Children (Basel). 2021.
PMID: 34204301
Free PMC article.
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The recurrent homozygous translation start site variant in CCDC134 in an individual with severe osteogenesis imperfecta of non-Morrocan ancestry.
Ali TM, Linnenkamp BDW, Yamamoto GL, Honjo RS, Cabral de Menezes Filho H, Kim CA, Bertola DR.
Ali TM, et al.
Am J Med Genet A. 2022 May;188(5):1545-1549. doi: 10.1002/ajmg.a.62651. Epub 2022 Jan 12.
Am J Med Genet A. 2022.
PMID: 35019224
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