2024-03-28T13:53:54Z
http://repoint.unil.ch/oaiprovider/
oai:serval.unil.ch:BIB_B5F8AE6D757E
2024-03-23T02:52:41Z
serval:BIB_B5F8AE6D757E
Six additional cases of SEDC due to the same and recurrent R989C mutation in the COL2A1 gene-the clinical and radiological follow-up.
10.1002/ajmg.a.36954
25735649
000352019000038
C Silveira
K.
author
C Bonadia
L.
author
Superti-Furga
A.
author
R Bertola
D.
author
A L Jorge
A.
author
P Cavalcanti
D.
author
article
letter
2015
American Journal of Medical Genetics. Part A
1552-4833
1552-4825
journal
167
4
894-901
eng
60_published
peer-reviewed
Publication types: Letter Publication Status: ppublish Document Type: Letter