Changes in the cohort composition of turner syndrome and severe non-diagnosis of Klinefelter, 47,XXX and 47,XYY syndrome: a nationwide cohort study

BACKGROUND: Knowledge on the prevalence of sex chromosome abnormalities (SCAs) is limited, and delayed diagnosis or non-diagnosis of SCAs are a continuous concern. We aimed to investigate change over time in incidence, prevalence and age at diagnosis among Turner syndrome (TS), Klinefelter syndrome...

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Pubblicato in:Orphanet J Rare Dis
Autori principali: Berglund, Agnethe, Viuff, Mette Hansen, Skakkebæk, Anne, Chang, Simon, Stochholm, Kirstine, Gravholt, Claus Højbjerg
Natura: Artigo
Lingua:Inglês
Pubblicazione: BioMed Central 2019
Soggetti:
Research
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC6332849/
https://ncbi.nlm.nih.gov/pubmed/30642344
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-018-0976-2
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