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Article

Detailed clinical and molecular study of 20 females with Xq deletions with special reference to menstruation and fertility.

European journal of medical genetics - 1 Jan 2013

Mercer Catherine L, Lachlan Katherine, Karcanias Alexandra, Affara Nabeel, Huang Shuwen, Jacobs Patricia A, Thomas N Simon

Abstract excerpt

Integrity of the long arm of the X chromosome is important for maintaining female fertility and several critical regions for normal ovarian function have been proposed. In order to understand further the importance of specific areas of the X chromosome, we describe a series of 20 previously unreported patients missing part of Xq in whom detailed phenotypic information has been gathered as well as precise...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 23059468
DOI: 10.1016/j.ejmg.2012.08.012

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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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