A novel variant of the IFITM5 gene within the 5′‐UTR causes neonatal transverse clavicular fracture: Expanding the genetic spectrum-Reference-Cited by-同舟云学术

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A novel variant of the IFITM5 gene within the 5′‐UTR causes neonatal transverse clavicular fracture: Expanding the genetic spectrum

Published:2020-05-08 Issue:7 Volume:8 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Wu Dong¹^ORCID,Wang Yuxin²,Huang Huijuan¹

Affiliation:

1. Department of Obstetrics and Gynecology 900 Hospital of the Joint Logistics Team or Dongfang Hospital Fuzhou Fujian People's Republic of China

2. Department of Ultrasound 900 Hospital of the Joint Logistics Team or Dongfang Hospital Fuzhou Fujian People's Republic of China

Funder

Natural Science Foundation of Fujian Province

Publisher

Wiley

Subject

Genetics(clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1287

Reference31 articles.

1. Non-union in osteogenesis imperfecta

2. Phenotype-driven gene target definition in clinical genome-wide sequencing data interpretation

3. Site-Directed Mutagenesis

4. Hypermineralization and High Osteocyte Lacunar Density in Osteogenesis Imperfecta Type V Bone Indicate Exuberant Primary Bone Formation

5. Natural History of Hyperplastic Callus Formation in Osteogenesis Imperfecta Type V

Cited by 8 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. A Sporadic Case of COL1A1 Osteogenesis Imperfecta: From Prenatal Diagnosis to Outcomes in Infancy—Case Report and Literature Review;Genes;2023-11-10

2. Osteogenesis imperfecta type V: a report of a Chinese family with a mutation in IFITM5 gene;Minerva Endocrinology;2023-09

3. Does the c.-14C>T Mutation in the IFITM5 Gene Provide Identical Phenotypes for Osteogenesis Imperfecta Type V? Data from Russia and a Literature Review;Biomedicines;2022-09-22

4. The Osteogenesis Imperfecta Type V Mutant BRIL/IFITM5 Promotes Transcriptional Activation of MEF2, NFATc, and NR4A in Osteoblasts;International Journal of Molecular Sciences;2022-02-15

5. A Novel IFITM5 Variant Associated with Phenotype of Osteoporosis with Calvarial Doughnut Lesions: A Case Report;Calcified Tissue International;2021-06-22

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