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2024-03-23T03:05:30Z
serval:BIB_DD363A0A5D79
Pathogenic mosaic variants in congenital hypogonadotropic hypogonadism.
10.1038/s41436-020-0896-0
000555543600001
32724172
Acierno
J.S.
author
Xu
C.
author
Papadakis
G.E.
author
Niederländer
N.J.
author
Rademaker
J.D.
author
Meylan
J.
author
Messina
A.
author
Kolesinska
Z.
author
Quinton
R.
author
Lang-Muritano
M.
author
Bartholdi
D.
author
Halperin
I.
author
De Geyter
C.
author
Bouligand
J.
author
Bartoloni
L.
author
Young
J.
author
Santoni
F.A.
author
Pitteloud
N.
author
article
2020-11
Genetics in medicine
1530-0366
1098-3600
journal
22
11
1759-1767
Genetic Counseling
Humans
Hypogonadism/genetics
Infertility
Mosaicism
Whole Exome Sequencing
CHD7
FGFR1
copy-number variation
hypogonadotropic hypogonadism
postzygotic mosaicism
eng
60_published
peer-reviewed
Publication types: Journal Article ; Research Support, Non-U.S. Gov't
Publication Status: ppublish
https://serval.unil.ch/notice/serval:BIB_DD363A0A5D79
https://serval.unil.ch/resource/serval:BIB_DD363A0A5D79.P001/REF.pdf
Restricted: indefinite embargo
Creative Commons : Attribution 4.0 International