Two novel mutations of COL1A1 in fetal genetic skeletal dysplasia of Chinese-Reference-Cited by-同舟云学术

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Two novel mutations of COL1A1 in fetal genetic skeletal dysplasia of Chinese

Published:2020-01-03 Issue:3 Volume:8 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Li Ruibing¹²,Wang Jianan¹,Wang Longxia³,Lu Yanping¹,Wang Chengbin²^ORCID

Affiliation:

1. Department of Obstetrics and Gynecology, the First Medical Center Chinese PLA General Hospital Beijing China

2. Department of Clinical Laboratory Medicine, the First Medical Center Chinese PLA General Hospital Beijing China

3. Department of Ultrasonography, the First Medical Center Chinese PLA General Hospital Beijing China

Publisher

Wiley

Subject

Genetics(clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1105

Reference37 articles.

1. Clinical epidemiology of skeletal dysplasias in South America

2. A variant of neonatal progeroid syndrome, or Wiedemann–Rautenstrauch syndrome, is associated with a nonsense variant in POLR3GL

3. Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes

4. A systematic review of genetic skeletal disorders reported in Chinese biomedical journals between 1978 and 2012

5. Fetal Skeletal Dysplasia: An Approach to Diagnosis with Illustrative Cases

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 De novo Mutation in the COL1A1 Gene Leading to Severe Osteogenesis Imperfecta: Case Report and Review of the Literature;American Journal of Perinatology Reports;2024-07

2. Application of whole exome sequencing in fetal cases with skeletal abnormalities;Heliyon;2022-07

3. Prenatal trio-based whole exome sequencing in fetuses with abnormalities of the skeletal system;Molecular Genetics and Genomics;2022-05-18

4. Five novel globin gene mutations identified in five Chinese families by next‐generation sequencing;Molecular Genetics & Genomic Medicine;2021-10-28

5. Prenatal Diagnosis in a Fetus With X-Linked Recessive Chondrodysplasia Punctata: Identification and Functional Study of a Novel Missense Mutation in ARSE;Frontiers in Genetics;2021-09-24

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