Spondyloepiphyseal dysplasia congenita caused by double heterozygous mutations inCOL2A1
Author:
Affiliation:
1. Department of Pediatrics; Obihiro Kyokai Hospital; Obihiro Japan
2. Department of Pediatrics; Hokkaido University School of Medicine; Kita-ku Sapporo Japan
3. Department of Pediatrics; Obihiro Kousei Hospital; Obihiro Japan
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.37073/fullpdf
Reference17 articles.
1. A method and server for predicting damaging missense mutations;Adzhubei;Nat Methods,2010
2. Novel and recurrent COL2A1 mutations in Chinese patients with spondyloepiphyseal dysplasia;Cao;Genet Mol Res,2012
3. Gain-of-function amino acid substitutions drive positive selection of FGFR2 mutations in human spermatogonia;Goriely;Proc Natl Acad Sci USA,2005
4. Clinical phenotypes associated with type II collagen mutations;Kannu;J Paediatr Child Health,2012
5. Direct estimates of human per nucleotide mutation rates at 20 loci causing Mendelian diseases;Kondrashov;Hum Mutat,2003
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1. A Severe Case of Spondylometaphyseal Dysplasia Algerian Type with Two Mutations in COL2A1;Journal of Pediatric Genetics;2021-07-26
2. 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;BMC Medical Genomics;2021-06-28
3. Integrated analysis ofCOL2A1variant data and classification of type II collagenopathies;Clinical Genetics;2019-12-06
4. A novel de novo mutation in COL2A1 leading to spondyloepiphyseal dysplasia congenita in a Chinese family;Human Genome Variation;2018-01-11
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