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Archives de pédiatrie
Volume 20, n° 4
page 431 (avril 2013)
Doi : 10.1016/j.arcped.2013.01.049

Leucodystrophies hypomyélinisantes liées aux mutations récessives de GJC2 (connexine 47) : particularités clinicoradiologiques à propos d’une série de 17 cas

F. Renaldo a, b, e, , D. Tonduti a, b, I. Dorboz b, J. Masliah-Planchon b, c, G. Giraud g, M. Elmaleh d, S. Orivoli e, C. Beraud-Majorel e, S. Drunat b, c, F. Chalard f, M.-A. Barthez h, I. Desguerre i, S. Quijano-Roy j, D. Rodriguez b, e, O. Boespflug-Tanguy a, b
a Centre de référence des leucodystrophies, neuropédiatrie, maladies métaboliques, hôpital Debré, Paris, France 
b Inserm U676, physiopathologie, conséquences fonctionnelles et neuroprotection des atteintes du cerveau en développement, France 
c UF génétique moléculaire, France 
d Radiologie, hôpital Trousseau, Paris, France 
e Neuropédiatrie, centre de référence des maladies neurogénétiques de l’enfant à l’adulte, France 
f Radiologie, France 
g GRED Inserm U931, médecine, Clermont-Ferrand, France 
h Neuropédiatrie, hôpital Clocheville, Tours, France 
i Neuropédiatrie, hôpital Necker, Paris, France 
j Pédiatrie, hôpital Poincaré, Garches, France 

Auteur correspondant.

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