Загрузка...
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...
Сохранить в:
| Опубликовано в: : | Eye (Lond) |
|---|---|
| Главные авторы: | , , , , , , |
| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
Nature Publishing Group
2015
|
| Предметы: | |
| Online-ссылка: | 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 |
| Метки: |
Добавить метку
Нет меток, Требуется 1-ая метка записи!
|