Bi-allelic MYORG variant carriers exhibit primary brain calcification with a distinct phenotype
L. Grangeon,D. Wallon,C. Charbonnier,O. Quenez,A. Richard,S. Rousseau, C. Budowski, T. Le Bouvier,C. Anne-Gaelle,V. Marie, M. Aurelie,R. Emmanuel,A. Mathieu,T. Christine,P. Favrole,J. Antoine, L. Defebvre,X. Ayrignac,P. Labauge,J. Pariente,M. Clanet, D. Maltete,A. Rovelet-Lecrux,A. Boland,J. Deleuze,T. Frebourg,D. Hannequin,D. Campion,G. Nicolas EUROPEAN JOURNAL OF HUMAN GENETICS(2019)
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