Developing pathways to clarify pathogenicity of unclassified variants in Osteogenesis Imperfecta genetic analysis-Reference-Cited by-同舟云学术

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Developing pathways to clarify pathogenicity of unclassified variants in Osteogenesis Imperfecta genetic analysis

Published:2019-09-30 Issue:12 Volume:7 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Balasubramanian Meena¹²³^ORCID,Hobson Emma⁴,Skae Mars⁵,McCaughey Janine⁶,Stephens David J.⁶

Affiliation:

1. Highly Specialised Severe, Complex & Atypical OI Service Sheffield Children’s NHS Foundation Trust Sheffield UK

2. Sheffield Clinical Genetics Service Sheffield Children's NHS Foundation Trust Sheffield UK

3. Academic Unit of Child Health University of Sheffield Sheffield UK

4. Yorkshire Clinical Genetics Service Chapel Allerton Hospital Leeds UK

5. Department of Paediatric Endocrinology Royal Manchester Children’s Hospital Manchester UK

6. School of Biochemistry, Faculty of Life Sciences University of Bristol Bristol UK

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.912

Reference9 articles.

1. Collagen type I and type V are present in the same fibril in the avian corneal stroma.

2. Dermal collagen fibrils are hybrids of type I and type III collagen molecules

3. Osteogenesis imperfecta

4. Genetic causes and mechanisms of Osteogenesis Imperfecta

5. The Pathway of Collagen Secretion

Cited by 2 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. Collagenopathies: Osteogenesis imperfecta and related disorders;Genomic and Molecular Cardiovascular Medicine;2024

2. Expanding the phenotype of SPARC-related osteogenesis imperfecta: clinical findings in two patients with pathogenic variants in SPARC and literature review;Journal of Medical Genetics;2021-08-30

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