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Article

Phenotype in girls and women with Turner syndrome: Association between dysmorphic features, karyotype and cardio-aortic malformations.

European journal of medical genetics - 1 Jun 2018

Noordman Iris, Duijnhouwer Anthonie, Kapusta Livia, Kempers Marlies, Roeleveld Nel, Schokking Michiel, Smeets Dominique, Freriks Kim, Timmers Henri, van Alfen-van der Velden Janiëlle

Abstract excerpt

INTRODUCTION: Turner syndrome (TS) is a genetic disorder characterized by the (partial) absence or a structural aberration of the second sex chromosome and is associated with a variety of phenotypes with specific physical features and cardio-aortic malformations. The objective of this study was to gain a better insight into the differences in dysmorphic features between girls and women with TS and to explore the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 29339108
DOI: 10.1016/j.ejmg.2018.01.004

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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