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Article

Turner syndrome female with a small ring X chromosome lacking the XIST, an unexpectedly mild phenotype and an atypical association with alopecia universalis.

Annales de genetique - 1 Jan 2000

Bouayed Abdelmoula N, Portnoï M F, Amouri A, Arladan A, Chakroun M, Saad A, Hchicha M, Turki H, Rebai T

Abstract excerpt

Rearranged X chromosome in Turner syndrome (TS) are generally well tolerated but in cases of ring X chromosomes and of X/autosome translocations the incidence of mental retardation and other congenital abnormalities can be significantly higher. These abnormal phenotypes can be ascribed to failed...

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Identifiers

PMID: 15337477
DOI: 10.1016/j.anngen.2004.03.008

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-15337477-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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