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A de novo mutation in RPL10 causes a rare X-linked ribosomopathy characterized by syndromic intellectual disability and epilepsy: A new case and review of the literature
Bourque, Danielle K., Hartley, Taila, Nikkel, Sarah M., Pohl, Daniela, Tétreault, Martine, Kernohan, Kristin D., Dyment, David A.Language:
english
Journal:
European Journal of Medical Genetics
DOI:
10.1016/j.ejmg.2017.10.011
Date:
October, 2017
File:
PDF, 1.29 MB
english, 2017