Lab News

The analysis of new mutations in RTTN is published.

This was a great collaboration with the labs of F. Sessions Cole III (Dept. of Pediatrics), Susan Dutcher (Genetics) and Thomas Ferkol (Pediatrics).

The study titled “Functional characterization of biallelic RTTN variants identified in an infant with microcephaly, simplified gyral pattern, pontocerebellar hypoplasia, and seizures” can be found here.

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