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Article

Ending the late diagnosis of Turner syndrome through a novel high-throughput assay.

Pediatric endocrinology reviews : PER - 1 May 2012

Rivkees Scott A

Abstract excerpt

Turner syndrome (TS) occurs when an X-chromosome is completely or partially deleted, or when X-chromosomal mosaicism is present. Girls with TS benefit from early diagnosis and treatment with growth hormone; however, many girls with TS are not detected until after 10 years of age resulting in delayed evaluation and treatment. To facilitate the detection of TS, we developed a high-throughput test for TS, based on a...

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Share to Chromosomes, Human, X
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 22946279

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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