Characterization of a novel COL10A1 variant associated with Schmid‐type metaphyseal chondrodysplasia and a literature review-Reference-Cited by-同舟云学术

Characterization of a novel COL10A1 variant associated with Schmid‐type metaphyseal chondrodysplasia and a literature review

Published:2021-03-25 Issue: Volume: Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Wu Huixiao¹²³⁴,Wang Shuping¹⁵,Li Guimei⁶,Yao Yangyang⁷,Wang Ning³⁴,Sun Xiaoqing³⁴,Fang Li¹²³⁴,Jiang Xiuyun¹²³⁴,Zhao Jiajun¹²³⁴,Wang Yanzhou⁷,Xu Chao¹²³⁴^ORCID

Affiliation:

1. Department of Endocrinology and Metabolism Shandong Provincial HospitalCheeloo College of MedicineShandong University Jinan China

2. Department of Endocrinology and Metabolism Shandong Provincial Hospital Affiliated to Shandong First Medical University Jinan China

3. Institute of Endocrinology Shandong Academy of Clinical Medicine Jinan China

4. Shandong Clinical Medical Center of Endocrinology and Metabolism Jinan China

5. Department of Endocrinology and Metabolism Dongying people's Hospital Dongying China

6. Department of Pediatric Shandong Provincial Hospital Affiliated to Shandong First Medical University Jinan China

7. Department of Pediatric Orthopedics Shandong Provincial Hospital Affiliated to Shandong First Medical University Jinan China

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1668

Reference27 articles.

1. Clinical practice. Short stature in childhood–challenges and choices;Allen D. B.;New England Journal of Medicine,2013

2. Identification of four novel COL10A1 missense mutations in schmid metaphyseal chondrodysplasia: Further evidence that collagen X NC1 mutations impair trimer assembly;Bateman J. F.;Human Mutation,2004

3. Tissue‐specific RNA surveillance? Nonsense‐mediated mRNA decay causes collagen X haploinsufficiency in Schmid metaphyseal chondrodysplasia cartilage;Bateman J. F.;Human Molecular Genetics,2003

4. Mutations of COL10A1 in Schmid metaphyseal chondrodysplasia;Bateman J. F.;Human Mutation,2005

5. Insight into Schmid metaphyseal chondrodysplasia from the crystal structure of the collagen X NC1 domain trimer;Bogin O.;Structure,2002

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