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A novel de novo mutation in COL2A1 leading to spondyloepiphyseal dysplasia congenita in a Chinese family
Spondyloepiphyseal dysplasia congenita (SEDC) is an extremely rare autosomal dominant chondrodysplasia that is usually caused by substitution of glycine with another amino acid in the triple helical region of COL2A1. Herein, we describe a case of SEDC in a Chinese family with a novel de novo mutatio...
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| Publicado no: | Hum Genome Var |
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| Main Authors: | , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Nature Publishing Group
2018
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5763142/ https://ncbi.nlm.nih.gov/pubmed/29354277 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/hgv.2017.59 |
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