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1. Homozygous Truncating Intragenic Duplication in TUSC3 Responsible for Rare Autosomal Recessive Nonsyndromic Intellectual Disability with No Clinical or Biochemical Metabolic Markers

Author

El Chehadeh, S., Bonnet, C., Callier, P., Béri, M., Dupré, T., Payet, M., Ragon, C., Mosca-Boidron, A. L., Marle, N., Mugneret, F., Masurel-Paulet, A., Thevenon, J., Seta, N., Duplomb, L., Jonveaux, P., Faivre, L., Thauvin-Robinet, C., Zschocke, Johannes, Editor-in-chief, Baumgartner, Matthias, editor, Morava, Eva, editor, Patterson, Marc, editor, Rahman, Shamima, editor, and Peters, Verena, editor

Published
2015
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