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Novel COL2A1 variants in Japanese patients with spondyloepiphyseal dysplasia congenita
Abstract Spondyloepiphyseal dysplasia congenita (SEDC) is a multisystemic skeletal disorder caused by pathogenic variants in COL2A1. Here, we report the genotype-phenotype correlations in five Japanese patients with SEDC based on their clinical and radiological findings. All five patients had novel...
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| Main Authors: | , , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Nature Publishing Group
2022-05-01
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| Colecção: | Human Genome Variation |
| Acesso em linha: | https://doi.org/10.1038/s41439-022-00193-x |
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