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Article

Ullrich-Turner syndrome is not caused by haploinsufficiency of RPS4X.

Human genetics - 1 Jan 1996

Geerkens C, Just W, Held K R, Vogel W

Abstract excerpt

Ullrich-Turner syndrome (UTS) is frequently associated with monosomy X but may also occur with structural aberrations of the X and the Y chromosomes. It has been hypothesized that the ribosomal protein genes RPS4X and RPS4Y play a critical role in the prevention of UTS. Individual patients with a 46,X,i(Xq) karyotype cannot be differentiated phenotypically from 45,X UTS patients and carry three gene copies of...

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PMID: 8557258
DOI: 10.1007/BF00218830

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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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Ullrich-Turner syndrome is not caused by haploinsufficiency of RPS4X.PMID 8557258Read ↗

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New insights into 5q- syndrome as a ribosomopathySemantic proximity Read ↗

The transcriptomic landscape of monosomy X (45,X) during early human fetal and placental developmentSemantic proximity Read ↗

A heterozygous mutation in RPGR associated with X-linked retinitis pigmentosa in a patient with Turner syndrome mosaicism (45,X/46,XX).Semantic proximity Read ↗

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