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Pathogenic variants in CDC45 on the remaining allele in patients with a chromosome 22q11.2 deletion result in a novel autosomal recessive condition
Authors
A Ardeshirdavani
A Szambowska
+44Â more
AL Fenwick
Beata Nowakowska
Beverly S. Emanuel
C Kohler
DM McDonald-McGinn
DM McDonald-McGinn
DM McDonald-McGinn
Donna McDonald-McGinn
Elaine H. Zackai
Gail E. Graham
HA Siitonen
J Gerhardt
J Piard
J Zernant
Joris R. Vermeesch
K Rojnueangnit
K Yoshida
KA Miller
KS Makarova
L Van Maldergem
L Van Maldergem
M Dusl
M Pacek
M Unolt
Maciej Geremek
Marta Unolt
Matthew S. Hestand
MN Sangrithi
Molka Kammoun
MS Hestand
N Yang
P Devanna
P Saha
R Colnaghi
S Kunishima
S Pollok
SA de Munnik
SC Saitta
T Yamamoto
T. Blaine Crowley
TH Shaikh
W Al-Hertani
Wolfram Demaerel
Y Tomita
Publication date
Publisher
'Springer Science and Business Media LLC'
Doi
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Last time updated on 05/09/2020