Literature DB >> 23495189

A second report of p.Pro986Leu variant in COL2A1-phenotypic overlap with SEDC and other forms of type II collagenopathies.

Brian H Y Chung, Ho-ming Luk, Ivan F M Lo, Stephen T S Lam, Raymond H W Li.   

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Year:  2013        PMID： 23495189     DOI： 10.1002/ajmg.a.35793

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


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  5 in total

Review 1.  Novel COL2A1 mutations causing spondyloepiphyseal dysplasia congenita in three unrelated Chinese families.

Authors:  Limin Liu; QianQian Pang; Yan Jiang; Mei Li; Ou Wang; Weibo Xia
Journal:  Eur Spine J       Date:  2016-04-08       Impact factor: 3.134

2.  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

3.  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

4.  Familial Aggregation of a Novel Missense Variant of COL2A1 Gene Associated with Short Extremities: Case Report and Review of the Literature.

Authors:  Panagiotis Christopoulos; Anna Eleftheriades; George Paltoglou; Eleni Paschalidou; Emmanouil Kalampokas; Lina Florentin; Chrysanthi Billi; Makarios Eleftheriades
Journal:  Children (Basel)       Date:  2022-08-14

5.  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 in total

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