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...
| Auteurs principaux: | , , , , , , , , , , , , , , , , , |
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| Format: | Journal article |
| Langue: | English |
| Publié: |
Cell Press
2017
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