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What’s new in pontocerebellar hypoplasia? An update on genes and subtypes
BACKGROUND: Pontocerebellar hypoplasia (PCH) describes a rare, heterogeneous group of neurodegenerative disorders mainly with a prenatal onset. Patients have severe hypoplasia or atrophy of cerebellum and pons, with variable involvement of supratentorial structures, motor and cognitive impairments....
Kaydedildi:
| Yayımlandı: | Orphanet J Rare Dis |
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| Asıl Yazarlar: | , , , |
| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
BioMed Central
2018
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| Konular: | |
| Online Erişim: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6003036/ https://ncbi.nlm.nih.gov/pubmed/29903031 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-018-0826-2 |
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