| H00873 | |
| H番号 | H00873 |
| 名称 | Cousin 症候群; 肩甲骨骨盤異形成 |
| 概要 | Cousin syndrome arises from errors of morphogenesis. It is characterized by scapular and pelvic hypoplasia along with epiphyseal abnormalities, congenital dwarfism, and facial dysmorphy including cranial, cervical, and auricular malformations. Cousin syndrome is linked to TBX15 insufficiency. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | TBX15 [HSA:6913] [KO:K10182] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: LB9Y ICD-10: Q87.5 MeSH: C535550 OMIM: 260660 |
| 文献 | PMID:19068278 著者 Lausch E, Hermanns P, Farin HF, Alanay Y, Unger S, Nikkel S, Steinwender C, Scherer G, Spranger J, Zabel B, Kispert A, Superti-Furga A タイトル TBX15 mutations cause craniofacial dysmorphism, hypoplasia of scapula and pelvis, and short stature in Cousin syndrome. 雑誌 Am J Hum Genet 83:649-55 (2008) DOI:10.1016/j.ajhg.2008.10.011 |