RARS2 mutations in a sibship with infantile spasms

RARS2 mutations in a sibship with infantile spasms

Pontocerebellar hypoplasia is a group of heterogeneous neurodevelopmental disorders characterized by reduced volume of the brainstem and cerebellum. We report two male siblings who presented with early infantile clonic seizures, and then developed infantile spasms associated with prominent isolated...

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Bibliographic Details
Main Authors: Ngoh, Adeline, Bras, Jose, Guerreiro, Rita, Meyer, Esther, McTague, Amy, Dawson, Eleanor, Mankad, Kshitij, Gunny, Roxana, Clayton, Peter, Mills, Philippa B., Thornton, Rachel, Lai, Ming, Forsyth, Robert, Kurian, Manju A.
Format: Online
Language:English
Published: John Wiley and Sons Inc. 2016
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4864753/

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https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4864753/

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