TY - JOUR
T1 - What can we learn from common variants associated with unexpected phenotypes in rare genetic diseases?
AU - Erdmann, Jeanette
N1 - Funding Information:
Thanks to Prof. Heribert Schunkert and Prof. Markus M. N?then for critical reading and discussion, and to Tobias Reinberger for providing Fig.?2. Thanks to the unknown reviewers for very constructive comments helping to improve the manuscript.
Publisher Copyright:
© 2021, The Author(s).
Copyright:
Copyright 2021 Elsevier B.V., All rights reserved.
PY - 2021/1/21
Y1 - 2021/1/21
N2 - The purpose of this article is to stimulate discussion about whether a phenome-wide association study is a suitable tool for uncovering late-onset risks in patients with monogenic disorders that are not yet fully recognized because the life expectancy of people with such conditions has only recently extended, and they now reach older ages when they may develop additional complications.
AB - The purpose of this article is to stimulate discussion about whether a phenome-wide association study is a suitable tool for uncovering late-onset risks in patients with monogenic disorders that are not yet fully recognized because the life expectancy of people with such conditions has only recently extended, and they now reach older ages when they may develop additional complications.
UR - http://www.scopus.com/inward/record.url?scp=85099563609&partnerID=8YFLogxK
UR - https://www.mendeley.com/catalogue/00ae6e6a-0598-354f-9002-6dcd3a0085ec/
U2 - 10.1186/s13023-021-01684-w
DO - 10.1186/s13023-021-01684-w
M3 - Letters
C2 - 33478553
AN - SCOPUS:85099563609
SN - 1750-1172
VL - 16
SP - 41
JO - Orphanet Journal of Rare Diseases
JF - Orphanet Journal of Rare Diseases
IS - 1
M1 - 41
ER -
