Literature DB >> 17509551

A first familial G504S mutation of COL2A1 gene results in distinctive spondyloepiphyseal dysplasia congenita.

Xinyi Xia, Yingxia Cui, Yufeng Huang, Lianjun Pan, Yongming Wu, Pingping Zhang, Baofang Jin.   

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Year:  2007        PMID： 17509551     DOI： 10.1016/j.cca.2007.04.005

Source DB:  PubMed          Journal:  Clin Chim Acta        ISSN： 0009-8981            Impact factor:   3.786


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  5 in total

1.  Specific entities affecting the craniocervical region: syndromes affecting the craniocervical junction.

Authors:  Arnold H Menezes; Timothy W Vogel
Journal:  Childs Nerv Syst       Date:  2008-03-28       Impact factor: 1.475

2.  A novel mutation in COL2A1 leading to spondyloepiphyseal dysplasia congenita in a three-generation family.

Authors:  Leilei Xu; Xusheng Qiu; Zezhang Zhu; Long Yi; Yong Qiu
Journal:  Eur Spine J       Date:  2014-04-16       Impact factor: 3.134

3.  Identification of a novel mutation of the COL2A1 gene in a Chinese family with spondyloepiphyseal dysplasia congenita.

Authors:  Hongzhuo Li; Liang Ma; Baozhu Wang; Yun Cui; Tao Xiao
Journal:  Eur Spine J       Date:  2015-05-13       Impact factor: 3.134

4.  Novel variants in COL2A1 causing rare spondyloepiphyseal dysplasia congenita.

Authors:  Wen-Bin Zheng; Lu-Jiao Li; Di-Chen Zhao; Ou Wang; Yan Jiang; Wei-Bo Xia; Xiao-Ping Xing; Mei Li
Journal:  Mol Genet Genomic Med       Date:  2020-01-23       Impact factor: 2.183

5.  Discovery of sensorineural hearing loss and ossicle deformity in a Chinese Li nationality family with spondyloepiphyseal dysplasia congenita caused by p.G504S mutation of COL2A1.

Authors:  Kan Wu; Zhumei Li; Yuhua Zhu; Xiaocheng Wang; Guohui Chen; Zhaohui Hou; Qiujing Zhang
Journal:  BMC Med Genomics       Date:  2021-06-28       Impact factor: 3.063
  5 in total

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