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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6258334/
https://www.ncbi.nlm.nih.gov/pubmed/29967526
http://dx.doi.org/10.1038/s41390-018-0083-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6258334/
https://www.ncbi.nlm.nih.gov/pubmed/29967526
http://dx.doi.org/10.1038/s41390-018-0083-z

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