Mosaic Turner syndrome shows reduced penetrance in an adult population study

PURPOSE: Many women with X chromosome aneuploidy undergo lifetime clinical monitoring for possible complications. However, ascertainment of cases in the clinic may mean that the penetrance has been overestimated. METHODS: We characterized the prevalence and phenotypic consequences of X chromosome an...

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Detalles Bibliográficos
Autores principales: Tuke, Marcus A., Ruth, Katherine S., Wood, Andrew R., Beaumont, Robin N., Tyrrell, Jessica, Jones, Samuel E., Yaghootkar, Hanieh, Turner, Claire L. S., Donohoe, Mollie E., Brooke, Antonia M., Collinson, Morag N., Freathy, Rachel M., Weedon, Michael N., Frayling, Timothy M., Murray, Anna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group US 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752315/
https://www.ncbi.nlm.nih.gov/pubmed/30181606
http://dx.doi.org/10.1038/s41436-018-0271-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752315/
https://www.ncbi.nlm.nih.gov/pubmed/30181606
http://dx.doi.org/10.1038/s41436-018-0271-6

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