A Novel missense mutation of<i>COL2A1</i>gene in a large family with stickler syndrome type I-Reference-Cited by-同舟云学术

A Novel missense mutation ofCOL2A1gene in a large family with stickler syndrome type I

Published:2022-01-21 Issue:5 Volume:26 Page:1530-1539
ISSN:1582-1838
Container-title:Journal of Cellular and Molecular Medicine
language:en
Short-container-title:J Cellular Molecular Medi

Author:

Liu Xiuzhen¹^ORCID,Dong Hongliang¹,Gong Yuerong²,Wang Lianqing³,Zhang Ruyi⁴,Zheng Tihua⁵,Zheng Yuxi⁶,Shen Shuang⁵,Zheng Chelsea⁷,Tian Mingming¹,Liu Naiguo¹,Zhang Xiaolin⁸,Zheng Qing Yin⁷

Affiliation:

1. Medical Research Center Binzhou Medical University Hospital Binzhou China

2. Department of Ophthalmology Binzhou Medical University Hospital Binzhou China

3. Center of Translational Medicine Central Hospital of Zibo Zibo China

4. Department of Anesthesiology Binzhou Medical University Hospital Binzhou China

5. Hearing and Speech Rehabilitation Institute College of Special Education Binzhou Medical University Yantai China

6. Department of Ophthalmology Duke University Durham North Carolina USA

7. Department of Otolaryngology‐HNS Case Western Reserve University Cleveland USA

8. Department of Otolaryngology/Head and Neck Surgery Institute of Otolaryngology Binzhou Medical University Hospital Binzhou China

Funder

National Natural Science Foundation of China

Publisher

Wiley

Subject

Cell Biology,Molecular Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/jcmm.17187

Reference45 articles.

1. Hereditary progressive arthro‐ophthalmopathy;Stickler GB;Mayo Clin Proc,1965

2. Clinical and molecular genetics of Stickler syndrome;Snead MP;J Med Genet,1999

3. Clinical features of hereditary progressive arthro-ophthalmopathy (Stickler syndrome): A survey

4. COL2A1 exon 2 mutations: relevance to the Stickler and Wagner syndromes

5. The Stickler syndrome: Genotype/phenotype correlation in 10 families with Stickler syndrome resulting from seven mutations in the type II collagen gene locus COL2A1

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