Mosaic Turner syndrome shows reduced penetrance in an adult population study.

2.50
Hdl Handle:
http://hdl.handle.net/11287/620857
Title:
Mosaic Turner syndrome shows reduced penetrance in an adult population study.
Authors:
Tuke, M. A.; Ruth, K. S.; Wood, A. R.; Beaumont, R. N.; Tyrrell, J.; Jones, S. E.; Yaghootkar, H.; Turner, Claire L.; Donohoe, Mollie; Brooke, Antonia; Collinson, M. N.; Freathy, R. M.; Weedon, M. N.; Frayling, T.M.; Murray, A.
Abstract:
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.
Citation:
Mosaic Turner syndrome shows reduced penetrance in an adult population study. 2018 Genet. Med.
Publisher:
Nature
Journal:
Genetics in medicine : official journal of the American College of Medical Genetics
Issue Date:
5-Sep-2018
URI:
http://hdl.handle.net/11287/620857
DOI:
10.1038/s41436-018-0271-6
PubMed ID:
30181606
Additional Links:
http://dx.doi.org/10.1038/s41436-018-0271-6
Type:
Journal Article
Language:
en
ISSN:
1530-0366
Appears in Collections:
Diabetes/Endocrine Services; Clinical Genetics (Peninsula Genetics); 2018 RD&E publications

Full metadata record

DC FieldValue Language
dc.contributor.authorTuke, M. A.en
dc.contributor.authorRuth, K. S.en
dc.contributor.authorWood, A. R.en
dc.contributor.authorBeaumont, R. N.en
dc.contributor.authorTyrrell, J.en
dc.contributor.authorJones, S. E.en
dc.contributor.authorYaghootkar, H.en
dc.contributor.authorTurner, Claire L.en
dc.contributor.authorDonohoe, Mollieen
dc.contributor.authorBrooke, Antoniaen
dc.contributor.authorCollinson, M. N.en
dc.contributor.authorFreathy, R. M.en
dc.contributor.authorWeedon, M. N.en
dc.contributor.authorFrayling, T.M.en
dc.contributor.authorMurray, A.en
dc.date.accessioned2018-10-04T11:51:16Z-
dc.date.available2018-10-04T11:51:16Z-
dc.date.issued2018-09-05-
dc.identifier.citationMosaic Turner syndrome shows reduced penetrance in an adult population study. 2018 Genet. Med.en
dc.identifier.issn1530-0366-
dc.identifier.pmid30181606-
dc.identifier.doi10.1038/s41436-018-0271-6-
dc.identifier.urihttp://hdl.handle.net/11287/620857-
dc.description.abstractMany 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.en
dc.language.isoenen
dc.publisherNatureen
dc.relation.urlhttp://dx.doi.org/10.1038/s41436-018-0271-6en
dc.rightsArchived with thanks to Genetics in medicine : official journal of the American College of Medical Geneticsen
dc.subjectWessex Classification Subject Headings::Oncology. Pathology.::Geneticsen
dc.subjectWessex Classification Subject Headings::Endocrinology::Diabetesen
dc.titleMosaic Turner syndrome shows reduced penetrance in an adult population study.en
dc.typeJournal Articleen
dc.identifier.journalGenetics in medicine : official journal of the American College of Medical Geneticsen
dc.type.versionIn press (epub ahead of print)en

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