A novel mutation in the promoter of RARS2 causes pontocerebellar hypoplasia in two siblings

Zejuan Li, Rhonda Schonberg, Lucia Guidugli, Amy Knight Johnson, Stephen Arnovitz, Sandra Yang, Joseph Scafidi, Marshall L. Summar, Gilbert Vezina, Soma Das, Kimberly Chapman, Daniela Del Gaudio

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Biochemistry, Genetics and Molecular Biology

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Neuroscience