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Homozygous Mutations in TBC1D23 Lead to a Non-degenerative Form of Pontocerebellar Hypoplasia
Pontocerebellar hypoplasia (PCH) represents a group of recessive developmental disorders characterized by impaired growth of the pons and cerebellum, which frequently follows a degenerative course. Currently, there are 10 partially overlapping clinical subtypes and 13 genes known mutated in PCH. Her...
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| Publicado no: | Am J Hum Genet |
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| Main Authors: | , , , , , , , , , , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Elsevier
2017
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5590949/ https://ncbi.nlm.nih.gov/pubmed/28823706 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2017.07.015 |
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