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Article

Epigenetics and genomics in Klinefelter syndrome.

American journal of medical genetics. Part C, Seminars in medical genetics - 1 Jun 2020

Skakkebaek Anne, Viuff Mette, Nielsen Morten M, Gravholt Claus H

Abstract excerpt

Since the first description of Klinefelter syndrome (KS) was published in 1942 in The Journal of Clinical Endocrinology, large inter-individual variability in the phenotypic presentation has been demonstrated. However, our understanding of the global impact of the additional X chromosome on the genome remains an enigma. Evidence from the existing literature of KS indicates that not just one single genetic...

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Identifiers

PMID: 32484281
DOI: 10.1002/ajmg.c.31802

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