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Functional characterization of biallelic RTTN variants identified in an infant with microcephaly, simplified gyral pattern, pontocerebellar hypoplasia, and seizures
Wambach, Jennifer A., Wegner, Daniel J., Yang, Ping, Shinawi, Marwan, Baldridge, Dustin, Betleja, Ewelina, Shimony, Joshua S., Spencer, David, Hackett, Brian P., Andrews, Marisa V., Ferkol, Thomas, DuLanguage:
english
Journal:
Pediatric Research
DOI:
10.1038/s41390-018-0083-z
Date:
June, 2018
File:
PDF, 4.23 MB
english, 2018