A de novo mutation in RPL10 causes a rare X-linked...

European Journal of Medical Genetics 2017 / 10

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.
How much do you like this book?
What’s the quality of the file?
Download the book for quality assessment
What’s the quality of the downloaded files?
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
Conversion to is in progress
Conversion to is failed