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Dominant‐negative SOX9 mutations in campomelic dysplasia
Campomelic dysplasia (CD) is an autosomal dominant, perinatal lethal skeletal dysplasia characterized by a small chest and short long bones with bowing of the lower extremities. CD is the result of heterozygosity for mutations in the gene encoding the chondrogenesis master regulator, SOX9. Loss‐of‐f...
Tallennettuna:
| Julkaisussa: | Hum Mutat |
|---|---|
| Päätekijät: | , , , , , , , , , |
| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
2019
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| Aiheet: | |
| Linkit: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7608528/ https://ncbi.nlm.nih.gov/pubmed/31389106 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23888 |
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