Article
Functional characterization of biallelic RTTN variants identified in an infant with microcephaly, simplified gyral pattern, pontocerebellar hypoplasia, and seizures.
Pediatric research - 1 Sept 2018
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
Abstract excerpt
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, pontocerebellar hypoplasia, and intractable seizures and his healthy, unrelated parents. We cultured the infant's...
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