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Article

Effect of chromosome constitution variations on the expression of Turner phenotype.

Genetics and molecular research : GMR - 13 Mar 2013

Bispo A V S, Dos Santos L O, Burégio-Frota P, Galdino M B, Duarte A R, Leal G F, Araújo J, Gomes B, Soares-Ventura E M, Muniz M T C, Santos N

Abstract excerpt

Turner syndrome (TS) is a chronic disease related to haploinsufficiency of genes that are normally expressed in both X chromosomes in patients with female phenotype that is associated with a wide range of somatic malformations. We made detailed cytogenetic and clinical analysis of 65 patients with TS from the region of Recife, Brazil, to determine the effects of different chromosome constitutions on expression of...

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PMID: 23546984
DOI: 10.4238/2013.March.13.13

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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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