Literature DB >> 25735649

Six additional cases of SEDC due to the same and recurrent R989C mutation in the COL2A1 gene--the clinical and radiological follow-up.

Karina C Silveira1, Luciana C Bonadia, Andrea Superti-Furga, Débora R Bertola, Alexander A L Jorge, Denise P Cavalcanti.   

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Year:  2015        PMID： 25735649     DOI： 10.1002/ajmg.a.36954

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  3 in total

1.  A novel de novo mutation in COL2A1 leading to spondyloepiphyseal dysplasia congenita in a Chinese family.

Authors:  Qiuhong Xiong; Yi Liu; Yu Xue; Shichao Liu; Jing Wang; Ping Li; Changxin Wu; Yanling Yang; Han Xiao
Journal:  Hum Genome Var       Date:  2018-01-11

2.  Recurrent c.G1636A (p.G546S) mutation of COL2A1 in a Chinese family with skeletal dysplasia and different metaphyseal changes: a case report.

Authors:  Jing Chen; Xiaomin Ma; Yulin Zhou; Guimei Li; Qiwei Guo
Journal:  BMC Pediatr       Date:  2017-07-24       Impact factor: 2.125

3.  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
  3 in total

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