The Klinefelter syndrome is associated with high recurrence of copy number variations on the X chromosome with a potential role in the clinical phenotype.

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第一作者： M S,Rocca

第一单位： Unit of Andrology and Reproductive Medicine, Department of Medicine, University of Padova, Padova, Italy.

作者： M S,Rocca ^[1] ; V,Pecile ^[2] ; L,Cleva ^[2] ; E,Speltra ^[1] ; R,Selice ^[1] ; A,Di Mambro ^[1] ; C,Foresta ^[1] ; A,Ferlin ^[1]

作者单位： Unit of Andrology and Reproductive Medicine, Department of Medicine, University of Padova, Padova, Italy. ^[1] Institute for Maternal and Child Health, IRCCS "Burlo Garofolo", Trieste, Italy. ^[2]

关键词 Klinefelter's syndrome copy number variation microarrays

主题词染色体, 人, X(Chromosomes, Human, X);女(雌)性(Female);基因剂量(Gene Dosage);基因型(Genotype);人类(Humans);Klinefelter综合征(Klinefelter Syndrome);男(雄)性(Male);表型(Phenotype);多态性, 单核苷酸(Polymorphism, Single Nucleotide)

DOI 10.1111/andr.12146

PMID 26789125

发布时间 2016-12-30

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Andrology

2016年4卷2期

328-34页

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The Klinefelter syndrome is associated with high recurrence of copy number variations on the X chromosome with a potential role in the clinical phenotype.

Andrology

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Andrology

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The Klinefelter syndrome is associated with high recurrence of copy number variations on the X chromosome with a potential role in the clinical phenotype.

Andrology

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Andrology

相关期刊

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