Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9

Pontocerebellar hypoplasia (PCH) represents a group of autosomal-recessive progressive neurodegenerative disorders of prenatal onset. Eleven PCH subtypes are classified according to clinical, neuroimaging and genetic findings. Individuals with PCH type 9 (PCH9) have a unique combination of postnatal...

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Udgivet i:Eur J Hum Genet
Main Authors: Kortüm, Fanny, Jamra, Rami Abou, Alawi, Malik, Berry, Susan A., Borck, Guntram, Helbig, Katherine L., Tang, Sha, Huhle, Dagmar, Korenke, Georg Christoph, Hebbar, Malavika, Shukla, Anju, Girisha, Katta M., Steinlin, Maja, Waldmeier-Wilhelm, Sandra, Montomoli, Martino, Guerrini, Renzo, Lemke, Johannes R., Kutsche, Kerstin
Format: Artigo
Sprog:Inglês
Udgivet: Springer International Publishing 2018
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5945775/
https://ncbi.nlm.nih.gov/pubmed/29463858
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-018-0098-2
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