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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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Publicat a:Pediatr Res
Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: 2018
Matèries:
Accés en línia: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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