Functional Characterization of Biallelic RTTN Variants Identified in an Infant with Microcephaly, Simplified Gyral Pattern, Pontocerebellar Hypoplasia, and Seizures

BACKGROUND: Biallelic deleterious variants in RTTN, which encodes rotatin, are associated with primary microcephaly, polymicrogyria, seizures, intellectual disability, and primordial dwarfism in human infants. METHODS AND RESULTS: We performed exome sequencing of an infant with primary microcephaly,...

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Detalhes bibliográficos
Publicado no:Pediatr Res
Main Authors: 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, Dutcher, Susan K., Mahjoub, Moe R., Cole, F. Sessions
Formato: Artigo
Idioma:Inglês
Publicado em: 2018
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6258334/
https://ncbi.nlm.nih.gov/pubmed/29967526
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41390-018-0083-z
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