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Ophthalmic and molecular genetic findings in Kniest dysplasia
PURPOSE: To study the variability of the ophthalmic phenotype in Kniest dysplasia. Kniest dysplasia is an inherited disorder associated with defects in type II collagen and characterised by short-trunked dwarfism, kyphoscoliosis, and enlarged joints with restricted mobility. Other features include m...
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| Publicado no: | Eye (Lond) |
|---|---|
| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Nature Publishing Group
2015
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4816360/ https://ncbi.nlm.nih.gov/pubmed/25592122 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/eye.2014.334 |
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