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Atypical Rothmund-Thomson syndrome in a patient with compound Heterozygous Mutations in RECQL4 Gene and phenotypic features in RECQL4 syndromes
Authors
A Beghini
A Mégarbané
+39 more
A Rothmund
Chantal Dangoisse
EM Vennos
FR Vargas
France Ziereisen
Gaia Roversi
H Kääriäinen
H. Annika Siitonen
HA Siitonen
K Jam
L Larizza
L Maldergem Van
L Maldergem Van
LA Pujol
Lidia Larizza
LL Wang
LL Wang
LL Wang
M Miozzo
M Petkovic
M Tong
MA Broom
MA Macris
Marjo Kestilä
Michèle Scaillon
NM Lindor
NM Lindor
P Balraj
P Mohaghegh
P Mohaghegh
R Kellermayer
S Kitao
S Kitao
S Thomson
SG Kant
Sylvie Tenoutasse
WB Taylor
Y Hilhorst-Hofstee
Yves Sznajer
Publication date
Publisher
'Springer Science and Business Media LLC'
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Abstract
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Last time updated on 03/12/2019