Novel variants in COL2A1 causing rare spondyloepiphyseal dysplasia congenita

Author:

Zheng Wen‐bin1ORCID,Li Lu‐jiao1,Zhao Di‐chen1,Wang Ou1,Jiang Yan1,Xia Wei‐bo1,Xing Xiao‐ping1,Li Mei1ORCID

Affiliation:

1. Key Laboratory of Endocrinology Department of Endocrinology National Health and Family Planning Commission Peking Union Medical College Hospital Chinese Academy of Medical Sciences and Peking Union Medical College Beijing China

Funder

National Natural Science Foundation of China

Publisher

Wiley

Subject

Genetics(clinical),Genetics,Molecular Biology

Reference37 articles.

1. Spondyloepiphyseal dysplasia congenita: Genetic linkage to type II collagen (COL2AI);Anderson I. J.;American Journal of Human Genetics,1990

2. The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype

3. Mutation Update forCOL2A1Gene Variants Associated with Type II Collagenopathies

4. Valgus hip osteotomy in children with spondyloepiphyseal dysplasia congenita: Midterm results;Bayhan I. A.;Journal of Pediatric Orthopedics,2017

5. Novel and recurrent COL2A1 mutations in Chinese patients with spondyloepiphyseal dysplasia

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