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中文Turner Syndrome (TS)
Alias:
Monosomy X
Gonadal Dysgenesis Turner Type
Bonnevie-Ullrich Syndrome
Ullrich-Turner Syndrome
45,x/46,xx Syndrome
Turner's Syndrome
Karyotype 45, X
45,x Syndrome
Gonadal Dysgenesis - Turner
Gonadal Dysgenesis, 45,x
Monosomy X Syndrome
Gonadal Dysgenesis
Turners Syndrome
Xo Syndrome
X0 Syndrome
45,x
Ts
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特纳综合症，又名单X综合症，与诺恩综合症1和性腺发育不全有关。特纳综合症相关的重要基因是SHOX（SHOX Homeobox），其相关通路/超级通路包括蛋白质代谢和PI3K-Akt信号通路。在特纳综合症的背景下，提到的药物有氨甲环酸和西洛他唑。相关组织包括皮肤和心脏，相关表型为短颈和骨质疏松。
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Basic Information
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MALACARDS
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