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Article

New approach to phenotypic variability and karyotype-phenotype correlation in Turner syndrome.

Journal of pediatric endocrinology & metabolism : JPEM - 1 Apr 2016

Miguel-Neto Jamil, Carvalho Annelise B, Marques-de-Faria Antonia Paula, Guerra-Júnior Gil, Maciel-Guerra Andréa T

Abstract excerpt

BACKGROUND: Phenotypic variability of Turner syndrome (TS) challenges clinicians, and undiagnosed mosaicism may lead to conflicting results of karyotype-phenotype correlations. This study assessed the extent of phenotypic variability and investigated the presence of karyotype-phenotype correlations. METHODS: The sample comprised 80 patients with ≥50 cells analyzed in karyotype. Twenty were 45,X/46,X,+mar; three...

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Source

Identifiers

PMID: 26812779
DOI: 10.1515/jpem-2015-0346

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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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