| H00882 | |
| H番号 | H00882 |
| 名称 | 胎児繭状症候群 |
| 概要 | Cocoon syndrome is an autosomal recessive lethal syndrome characterized by multiple fetal malformations, the most obvious anomalies being the defective face and seemingly absent limbs, which are bound to the trunk and encased under the skin. It has been reported that defects in CHUK are the cause of cocoon syndrome. CHUK has an essential role in the development of skin epidermis and its derivatives, along with various other morphogenetic events. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | CHUK [HSA:1147] [KO:K04467] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | OMIM: 613630 |
| 文献 | PMID:20961246 著者 Lahtela J, Nousiainen HO, Stefanovic V, Tallila J, Viskari H, Karikoski R, Gentile M, Saloranta C, Varilo T, Salonen R, Kestila M タイトル Mutant CHUK and severe fetal encasement malformation. 雑誌 N Engl J Med 363:1631-7 (2010) DOI:10.1056/NEJMoa0911698 |