The Klinefelter syndrome is associated with high recurrence of copy number variations on the X chromosome with a potential role in the clinical phenotype-Reference-Cited by-同舟云学术

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

Published:2016-01-20 Issue:2 Volume:4 Page:328-334
ISSN:2047-2919
Container-title:Andrology
language:en
Short-container-title:Andrology

Author:

Rocca M. S.¹,Pecile V.²,Cleva L.²,Speltra E.¹,Selice R.¹,Di Mambro A.¹,Foresta C.¹,Ferlin A.¹

Affiliation:

1. Unit of Andrology and Reproductive Medicine; Department of Medicine; University of Padova; Padova Italy

2. Institute for Maternal and Child Health; IRCCS “Burlo Garofolo”; Trieste Italy

Publisher

Wiley

Subject

Urology,Endocrinology,Reproductive Medicine,Endocrinology, Diabetes and Metabolism

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/andr.12146/fullpdf

Reference35 articles.

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2. 47, XXY Klinefelter syndrome: clinical characteristics and age-specific recommendations for medical management;Aksglaede;Am J Med Genet C Semin Med Genet,2013

3. Acromegaloidism with normal growth hormone secretion associated with X-tetrasomy;Alvarez-Vázquez;Pituitary,2006

4. Conservation of PCDHX in mammals; expression of X/Y genes predominantly in brain;Blanco;Mamm Genome,2000

5. Klinefelter syndrome in clinical practice;Bojesen;Nat Clin Pract,2007

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