| H01932 | |
| H番号 | H01932 |
| 名称 | 無眼瞼・巨口症症候群 |
| 概要 | Ablepharon-macrostomia syndrome (AMS) is a rare autosomal dominant condition characterized by absent eyelids, absent eyebrows and eyelashes, macrostomia, and external ear abnormalities. It has been reported that AMS is due to mutations in TWIST2. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | TWIST2 [HSA:117581] [KO:K09069] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: LD2F.1Y ICD-10: Q87.0 MeSH: C535557 OMIM: 200110 |
| 文献 | PMID:15103726 著者 Brancati F, Mingarelli R, Sarkozy A, Dallapiccola B タイトル Ablepharon-macrostomia syndrome in a 46-year-old woman. 雑誌 Am J Med Genet A 127A:96-8 (2004) DOI:10.1002/ajmg.a.20658 PMID:26119818 著者 Marchegiani S, Davis T, Tessadori F, van Haaften G, Brancati F, Hoischen A, Huang H, Valkanas E, Pusey B, Schanze D, Venselaar H, Vulto-van Silfhout AT, Wolfe LA, Tifft CJ, Zerfas PM, Zambruno G, Kariminejad A, Sabbagh-Kermani F, Lee J, Tsokos MG, Lee CC, Ferraz V, da Silva EM, Stevens CA, Roche N, Bartsch O, Farndon P, Bermejo-Sanchez E, Brooks BP, Maduro V, Dallapiccola B, Ramos FJ, Chung HY, Le Caignec C, Martins F, Jacyk WK, Mazzanti L, Brunner HG, Bakkers J, Lin S, Malicdan MC, Boerkoel CF, Gahl WA, de Vries BB, van Haelst MM, Zenker M, Markello TC タイトル Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes. 雑誌 Am J Hum Genet 97:99-110 (2015) DOI:10.1016/j.ajhg.2015.05.017 |