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Publikováno v:
Journal of Child Neurology, 32(10), 867-870. SAGE Publications Inc.
Song, H, Haeri, S, Vogel, H, Van Der Knaap, M & Van Haren, K 2017, ' Postmortem Whole Exome Sequencing Identifies Novel EIF2B3 Mutation with Prenatal Phenotype in 2 Siblings ', Journal of Child Neurology, vol. 32, no. 10, pp. 867-870 . https://doi.org/10.1177/0883073817712588
Song, H, Haeri, S, Vogel, H, Van Der Knaap, M & Van Haren, K 2017, ' Postmortem Whole Exome Sequencing Identifies Novel EIF2B3 Mutation with Prenatal Phenotype in 2 Siblings ', Journal of Child Neurology, vol. 32, no. 10, pp. 867-870 . https://doi.org/10.1177/0883073817712588
Objective: We describe 2 male siblings with a severe, prenatal phenotype of vanishing white matter disease and the impact of whole exome sequencing on their diagnosis and clinical care. Methods: The 2 children underwent detailed clinical characteriza