TSEN54 Gene-Related Pontocerebellar Hypoplasia Type 2 Could Mimic Dyskinetic Cerebral Palsy with Severe Psychomotor Retardation

TSEN54 Gene-Related Pontocerebellar Hypoplasia Type 2 Could Mimic Dyskinetic Cerebral Palsy with Severe Psychomotor Retardation

Pontocerebellar hypoplasia (PCH) type 2 is a very rare autosomal recessive neurodegenerative disorder with prenatal onset that disrupts brain development. We present three patients (two siblings and one unrelated child) with PCH 2 linked to the most common mutation c.919G > T (p.Ala307Ser) in TSE...

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Main Authors: Iliyana Hristova Pacheva (Author), Tihomir Todorov (Author), Ivan Ivanov (Author), Desislava Tartova (Author), Katerina Gaberova (Author), Albena Todorova (Author), Diana Dimitrova (Author)
Format: Book
Published: Frontiers Media S.A., 2018-01-01T00:00:00Z.
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3rd Floor Main Library

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