WordNet
- a pattern of symptoms indicative of some disease
- a complex of concurrent things; "every word has a syndrome of meanings"
PrepTutorEJDIC
- (疾患の徴候となる一群の)症徴候,症候群 / (事件・社会的状態などのパターンを示す)徴候形態
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- 1. マルファン症候群および関連疾患の遺伝学、臨床的特徴、および診断 genetics clinical features and diagnosis of marfan syndrome and related disorders
- 2. 小児における水晶体偏位（水晶体脱臼） ectopia lentis dislocated lens in children
English Journal
- LTBP2 mutations cause Weill-Marchesani and Weill-Marchesani-like syndrome and affect disruptions in the extracellular matrix.
- Haji-Seyed-Javadi R, Jelodari-Mamaghani S, Paylakhi SH, Yazdani S, Nilforushan N, Fan JB, Klotzle B, Mahmoudi MJ, Ebrahimian MJ, Chelich N, Taghiabadi E, Kamyab K, Boileau C, Paisan-Ruiz C, Ronaghi M, Elahi E.SourceSchool of Biology, University College of Science, University of Tehran, Tehran, Iran.
- Human mutation.Hum Mutat.2012 Apr 26. doi: 10.1002/humu.22105. [Epub ahead of print]
- Latent transforming growth factor (TGF) beta-binding protein 2 (LTBP2) is an extracellular matrix (ECM) protein that associates with fibrillin-1 containing microfibrils. Various factors prompted considering LTBP2 in the etiology of isolated ectopia lentis and associated conditions such as Weill-Marc
- PMID 22539340
- Familial spherophakia with short stature caused by a novel homozygous ADAMTS17 mutation.
- Khan AO, Aldahmesh MA, Al-Ghadeer H, Mohamed JY, Alkuraya FS.SourceDepartment of Genetics, King Faisal Specialist Hospital and Research Center , Riyadh , Saudi Arabia.
- Ophthalmic genetics.Ophthalmic Genet.2012 Apr 9. [Epub ahead of print]
- Purpose: Weill-Marchesani syndrome is characterized by spherophakia, short stature, short hands/feet, joint stiffness, and occasional cardiac abnormalities. The phenotype can be caused by recessive ADAMTS10 mutations or heterozygous fibrillin-1 mutation. In contrast, isolated spherophakia with short
- PMID 22486325
Japanese Journal
- 毛様体低形成を伴ったWeill-Marchesani症候群の1例
- 山本 裕香,片井 直達,吉田 章子
- 眼科臨床医報 100(11), 891-893, 2006
- NAID 40015166721
- In flame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome
- FAIVRE L
- J Med Genet 40, 34-36, 2003
- NAID 30021654175
- 多椎間胸椎椎間板障害の1例
- 山本 哲哉,松村 明,佐藤 弘茂,野口 昭三,能勢 忠男
- 脳神経外科ジャーナル 7(3), 182-186, 1998-03-20
- 症例は26歳の男性で, 画像上Th9-10, Th10-11, Th11-12に椎間板ヘルニアと骨棘, および後縦靱帯・黄色靱帯骨化症を認めた.身体所見では, 胸椎の後靭, 軽度の短躯, 硬く厚い皮膚と筋肉質体型を呈していたが, 基礎疾患としての組織異常の確定には至らなかった.髄核摘出と骨棘の除去を行い, 術後経過は良好であった.文献上の報告例の検討では, 多椎間胸椎間板ヘルニアは, 単椎間のもの …
- NAID 110003813214
Related Links
- Weill–Marchesani syndrome (also known as Spherophakia-brachymorphia syndrome, congenital mesodermal dystrophy, and GEMSS syndrome) is a rare, genetic disorder characterized by short stature; an unusually short, broad head ...
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★リンクテーブル★
| リンク元 | 「マルケサーニ症候群」 |
| 拡張検索 | 「Weill-Marchesani syndrome」 |
| 関連記事 | 「syndrome」 |
「マルケサーニ症候群」
- 英
- Marchesani syndrome, Marchesani's syndrome
- 同
- マルケザーニ症候群, 短指趾・小球状水晶体症候群 brachydactyly-spherophakia syndrome、ヴェイユ-マルケザーニ症候群 Weill-Marchesani syndrome WM syndrome、過形成中胚葉性ジストロフィー dystrophia mesodermalis hyperplastica, dysmorphodystrophia mesodermalis congenita
「Weill-Marchesani syndrome」
「syndrome」
- n.