| H01934 | |
| H番号 | H01934 |
| 名称 | Barber-Say 症候群 |
| 概要 | Barber-Say syndrome (BSS) is a rare autosomal dominant disorder characterized by generalized hypertrichosis especially at the back, other typical abnormalities of the skin, and facial dysmorphisms. It has been reported that BSS 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: LD27.3 ICD-10: Q87.0 MeSH: C537908 OMIM: 209885 |
| 文献 | 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 PMID:19760652 著者 Haensel J, Kohlschmidt N, Pitz S, Keilmann A, Zenker M, Ullmann R, Haaf T, Bartsch O タイトル Case report supporting that the Barber-Say and ablepharon macrostomia syndromes could represent one disorder. 雑誌 Am J Med Genet A 149A:2236-40 (2009) DOI:10.1002/ajmg.a.32993 |