Taybi syndrome

テイビ症候群

WordNet

1. a pattern of symptoms indicative of some disease
2. a complex of concurrent things; "every word has a syndrome of meanings"
3. a branch of the Tai languages

PrepTutorEJDIC

1. (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

Wikipedia preview

出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2017/01/16 22:44:36」(JST)

wiki en

[Wiki en表示]

Taybi syndrome may refer to:

• Rubinstein-Taybi syndrome, a syndrome characterized by unusual facial traits and broad thumbs and toes.
• Taybi Linder syndrome, also known as cephaloskeletal dysplasia

UpToDate Contents

全文を閲覧するには購読必要です。 To read the full text you will need to subscribe.

• 1. 微細欠失症候群（12番～22番染色体） microdeletion syndromes chromosomes 12 to 22
• 2. 萎縮性毛孔性角化症 keratosis pilaris atrophicans
• 3. ケロイドおよび肥厚性瘢痕 keloids and hypertrophic scars
• 4. ゲノム疾患：概要 genomic disorders an overview
• 5. 先天異常：評価アプローチ birth defects approach to evaluation

English Journal

• Rubinstein Taybi Syndrome in an Indian Child due to EP300 Gene Mutation: Correspondence.

• Negri G1, Larizza L2, Gervasini C3.
• Indian journal of pediatrics.Indian J Pediatr.2017 Jan;84(1):91-92. doi: 10.1007/s12098-016-2210-3.
• PMID 27581590

• First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant.

• López M1, Seidel V2, Santibáñez P1, Cervera-Acedo C1, Castro-de Castro P3, Domínguez-Garrido E4,5.
• BMC medical genetics.BMC Med Genet.2016 Dec 13;17(1):97.
• BACKGROUND: Rubinstein-Taybi syndrome (RSTS; OMIM #180849, #613684) is a rare autosomal dominant genetic condition characterized by broad thumbs and halluces, facial dysmorphism, short stature and variable degree of intellectual disability. RSTS is associated with mutations in CREBBP and EP300 genes
• PMID 27964710

• Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused by EP300 mutations.

• Fergelot P1, Van Belzen M2, Van Gils J3, Afenjar A4, Armour CM5, Arveiler B1, Beets L6, Burglen L4, Busa T7, Collet M8, Deforges J3, de Vries BB9, Dominguez Garrido E10, Dorison N11, Dupont J12, Francannet C13, Garciá-Minaúr S14, Gabau Vila E15, Gebre-Medhin S16, Gener Querol B17, Geneviève D18, Gérard M19, Gervasini CG20, Goldenberg A21, Josifova D22, Lachlan K23, Maas S6, Maranda B24, Moilanen JS25, Nordgren A26, Parent P27, Rankin J28, Reardon W29, Rio M7, Roume J30, Shaw A22, Smigiel R31, Sojo A17, Solomon B32, Stembalska A33, Stumpel C34, Suarez F35, Terhal P36, Thomas S37, Touraine R38, Verloes A39, Vincent-Delorme C40, Wincent J26, Peters DJ2, Bartsch O41, Larizza L42, Lacombe D1, Hennekam RC6.
• American journal of medical genetics. Part A.Am J Med Genet A.2016 Dec;170(12):3069-3082. doi: 10.1002/ajmg.a.37940. Epub 2016 Sep 20.
• Rubinstein-Taybi syndrome (RSTS) is a developmental disorder characterized by a typical face and distal limbs abnormalities, intellectual disability, and a vast number of other features. Two genes are known to cause RSTS, CREBBP in 60% and EP300 in 8-10% of clinically diagnosed cases. Both paralogs
• PMID 27648933

Japanese Journal

• Rubinstein-Taybi症候群に伴う発達緑内障に線維柱帯切開術が奏効した1例

• あたらしい眼科 33(6), 899-902, 2016-06
• NAID 40020889255

• Coffin-Siris syndrome with café-au-lait spots, obesity and hyperinsulinism caused by a mutation in the <i>ARID1B</i> gene

• Intractable & Rare Diseases Research 5(3), 222-226, 2016
• NAID 130005410357

• 肥満を伴うRubinstein-Taybi症候群患者の全身麻酔下歯科治療における周術期管理経験

• 日本障害者歯科学会雑誌 37(1), 42-47, 2016
• NAID 130005160500

Related Links

• Rubinstein-Taybi syndrome - Genetics Home Reference

Rubinstein-Taybi syndrome is a condition characterized by short stature, moderate to severe intellectual disability, distinctive facial features, and broad thumbs and first toes. Additional features of the disorder can include ...

• Rubinstein-Taybi syndrome: MedlinePlus Medical Encyclopedia

Rubinstein-Taybi syndrome (RTS) is a genetic disease that involves broad thumbs and toes, short stature, distinctive facial features, and varying degrees ... Rubinstein-Taybi syndrome is a rare condition. Defects in the ...

---

★リンクテーブル★

リンク元	「テイビ症候群」
拡張検索	「Rubinstein-Taybi syndrome」
関連記事	「syndrome」

「テイビ症候群」

　　[★]

英

Taybi syndrome

同

耳口蓋指症候群 oto-palate-digital症候群 otopalatodigital syndrome oto-palato-digital syndrome OPD syndrome

[show details]

耳口蓋指症候群 : 70 件
耳口蓋指趾症候群 : 13 件

テイビ症候群 : 97 件
耳口蓋指症候群 : 70 件

「Rubinstein-Taybi syndrome」

　　[★] ルビンシュタイン・テイビ症候群

「syndrome」

　　[★]

• n.

• 症候群