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MeSH:(Osteogenesis Imperfecta/genetics)

1.Osteogenesis Imperfecta Congenita: Five cases and review of the literature.

Pyung Kil KIM ; Chang Jun COE ; Dong Shik CHIN ; Byung Sook CHOI

Yonsei Medical Journal 1970;11(1):45-53

2.A novel splicing mutation in COL1A1 gene caused type I osteogenesis imperfecta in a Chinese family.

Ding ZHAO ; Junmei YANG ; Zhenxin GUO ; Rui LI

Chinese Journal of Medical Genetics 2014;31(2):189-191

3.Genetic mutation and clinical features of osteogenesis imperfecta type V.

Shizhen GUAN ; Xue BAI ; Yi WANG ; Zhigang LIU ; Xiuzhi REN ; Tianke ZHANG ; Mingyan JU ; Keqiu LI ; Guang LI

Chinese Journal of Medical Genetics 2017;34(6):797-801

4.Preimplantation genetic testing for a couple where the husband is affected by osteogenesis imperfecta combined with balanced translocation using karyomapping technique.

Wenbin NIU ; Mingzhu HUO ; Hao SHI ; Yidong LIU

Chinese Journal of Medical Genetics 2021;38(11):1068-1072

5.Identification of pathogenic variant and preimplantation genetic testing for a Chinese family affected with osteogenesis imperfecta.

Chuang LI ; Rui HOU ; Caixia LIU ; Huan LI ; Jesse LI-LING ; Yuan LYU

Chinese Journal of Medical Genetics 2022;39(1):21-25

7.Phenotype-genotype analysis and detection of gene variant in six families with osteogenesis imperfecta.

Rui HOU ; Chuang LI ; Caixia LIU ; Huan LI ; Jesse LI-LING ; Yuan LYU ; Zhitao ZHANG

Chinese Journal of Medical Genetics 2020;37(5):514-518

8.Analysis of LRP5 gene variants in a Chinese pedigree affected with Osteoporosis-pseudoglioma syndrome.

Zhouxian BAI ; Zhihui JIAO ; Xiangdong KONG

Chinese Journal of Medical Genetics 2022;39(2):185-188

9.Analysis of COL1A1 and COL1A2 gene variants in two fetuses with osteogenesis imperfecta.

Yaning ZHANG ; Xinyue WU ; Qiaoyun LIU ; Xiaona YAN ; Huize LIU ; Dairong FENG

Chinese Journal of Medical Genetics 2023;40(7):821-827

10.Osteogenesis Imperfecta Type VI with Severe Bony Deformities Caused by Novel Compound Heterozygous Mutations in SERPINF1.

Sung Yoon CHO ; Chang Seok KI ; Young Bae SOHN ; Su Jin KIM ; Se Hyun MAENG ; Dong Kyu JIN

Journal of Korean Medical Science 2013;28(7):1107-1110

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