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1 research outputs found
Skeletal manifestations of Marfan syndrome associated to heterozygous R2726W FBN1 variant: sibling case report and literature review
Author
A Paepe De
B Lee
+46 more
B Loeys
BL Loeys
C Hayward
C Jin
Carmen Palacios-Reyes
CC Hung
CJA Ramachandra
DM Milewicz
DM Milewicz
DP Judge
Enoc M. Cortés-Malagón
FS Dijk Van
G Collod-Béroud
G Pepe
H Chikuri
HC Dietz
JG Buchan
JH Yang
JJ Gagnier
Julián Ramírez-Bello
L Faivre
L Faivre
LC Adès
LG Gao
LY Sakai
M Attanasio
M Mamada
M Palz
M Raghunath
Mónica Sierra-Martínez
NJ Biery
OA Iakoubova
Octavio D. Reyes-Hernández
P Callier
Patricia Garcia Alonso-Themann
PN Robinson
R Matsukawa
RQ Yang
S Buoni
S Hutchinson
S Rand-Hendriksen
Sonia Chávez-Ocaña
The 1000 Genomes Project Consortium
TM Ritty
V Lesauskaite
Víctor Ramos-Cano
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
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