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中文1q44 Microdeletion Syndrome
Alias:
Monosomy 1q44
Del(1)(q44)
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1q44微缺失综合症，也被称为单体型1q44。与1q44微缺失综合症相关的重要基因是HNRNPU（异质性核糖核蛋白U）。相关组织包括肾脏和皮肤，相关表型为胼胝体发育不全和肌张力减退
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MALACARDS
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