Literature DB >> 26358419

Confirmation of autosomal recessive inheritance of COL2A1 mutations in spondyloepiphyseal dysplasia congenita: Lessons for genetic counseling.

Mouna Barat-Houari1,2, Geneviève Baujat3, Frédéric Tran Mau Them4, Aurélie Fabre1, David Geneviève2,4,5, Isabelle Touitou1,2,5.   

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Year:  2015        PMID： 26358419     DOI： 10.1002/ajmg.a.37374

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


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  2 in total

1.  A novel homozygous variant of COL2A1 in a Chinese male with type II collagenopathy: a case report.

Authors:  Qianwen Zhang; Ruen Yao; Qun Li; Xin Li; Biyun Feng; Guoying Chang; Jian Wang; Xiumin Wang
Journal:  BMC Med Genomics       Date:  2021-08-11       Impact factor: 3.063

2.  Clinical and Genetic Characteristics of COL2A1-Associated Skeletal Dysplasias in 60 Russian Patients: Part I.

Authors:  Tatyana Markova; Vladimir Kenis; Evgeniy Melchenko; Darya Osipova; Tatyana Nagornova; Anna Orlova; Ekaterina Zakharova; Elena Dadali; Sergey Kutsev
Journal:  Genes (Basel)       Date:  2022-01-13       Impact factor: 4.096
  2 in total

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