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Article

The contribution of Xp22.31 gene dosage to Turner and Klinefelter syndromes and sex-biased phenotypes.

European journal of medical genetics - 1 Apr 2021

Davies William

Abstract excerpt

Turner syndrome (TS) is a rare developmental condition in females caused by complete, or partial, loss of the second sex chromosome; it is associated with a number of phenotypes including short stature, ovarian failure and infertility, as well as neurobehavioural and cognitive manifestations. In contrast, Klinefelter syndrome (KS) arises from an excess of X chromosome material in males (typical karyotype is...

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Identifiers

PMID: 33610733
DOI: 10.1016/j.ejmg.2021.104169

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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