Yüklüyor......
Novel variants in COL2A1 causing rare spondyloepiphyseal dysplasia congenita
BACKGROUND: Spondyloepiphyseal dysplasia congenita (SEDC) is an extremely rare inherited chondrodysplasia characterized by abnormal epiphyses, short stature, and flattened vertebral bodies. We investigate the phenotypes and the disease‐associated variants of SEDC in two unrelated Chinese families. M...
Kaydedildi:
| Yayımlandı: | Mol Genet Genomic Med |
|---|---|
| Asıl Yazarlar: | , , , , , , , |
| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
John Wiley and Sons Inc.
2020
|
| Konular: | |
| Online Erişim: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7057085/ https://ncbi.nlm.nih.gov/pubmed/31972903 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1139 |
| Etiketler: |
Etiketle
Etiket eklenmemiş, İlk siz ekleyin!
|