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Article

Analysis of genetic variability in Turner syndrome linked to long-term clinical features.

Frontiers in endocrinology - 1 Jan 2023

Suntharalingham Jenifer P, Ishida Miho, Cameron-Pimblett Antoinette, McGlacken-Byrne Sinead M, Buonocore Federica, Del Valle Ignacio, Madhan Gaganjit Kaur, Brooks Tony, Conway Gerard S, Achermann John C

Abstract excerpt

Background: Women with Turner syndrome (TS) (45,X and related karyotypes) have an increased prevalence of conditions such as diabetes mellitus, obesity, hypothyroidism, autoimmunity, hypertension, and congenital cardiovascular anomalies (CCA). Whilst the risk of developing these co-morbidities may be partly related to haploinsufficiency of key genes on the X chromosome, other mechanisms may be involved. Improving...

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Identifiers

PMID: 37800145
DOI: 10.3389/fendo.2023.1227164
PMCID: PMC10548239

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