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- 小崎 寛子
- 東京都
書誌事項
- タイトル別名
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- A case of congenital anidiria
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抄録
A case of congenital anidiria with congenital nystagmus was reported. In his family, similar symptoms of anidiria and nystagmus were observed on eight members over three generation. Hereditary anidiria was transferred in autosomal dominant pattern in this pedigree. Nystagmus of this case was not supressed with closed eye, and may be of mixed origin of peripheral anterior visual pathway and central nervous system, as in albinism. Recent articles demonstrated that PAX6 gene was responsible for hereditary anidiria and congenital nystagmus. PAX6 gene has a role in movement of neural cells during development, as responsible gene of albinism has.
収録刊行物
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- Equilibrium Research
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Equilibrium Research 69 (2), 76-79, 2010
一般社団法人 日本めまい平衡医学会
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詳細情報 詳細情報について
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- CRID
- 1390001204948830208
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- NII論文ID
- 10026394860
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- NII書誌ID
- AN00001485
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- ISSN
- 1882577X
- 03855716
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- 本文言語コード
- ja
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- データソース種別
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- JaLC
- Crossref
- CiNii Articles
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- 抄録ライセンスフラグ
- 使用不可