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Found 2 translations.
| Name | Current message text |
|---|---|
| h English (en) | [[Knobloch syndrome]] – Caused by a mutation in the [[COL18A1]] gene that codes for the production of collagen XVIII. Patients present with protrusion of the brain tissue and degeneration of the retina; an individual who has family members with the disorder is at an increased risk of developing it themselves since there is a hereditary link. |
| h Japanese (ja) | [[Knobloch syndrome/ja|ノブロッホ症候群]] - コラーゲンXVIIIの産生をコードする[[COL18A1/ja|COL18A1]]遺伝子の変異によって引き起こされる。脳組織の突出と網膜の変性がみられる。家族にこの疾患の患者がいる場合、遺伝的な関連性があるため、自分自身が発症するリスクが高くなる。 |