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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Veröffentlicht in:Am J Hum Genet
Hauptverfasser: Marin-Valencia, Isaac, Gerondopoulos, Andreas, Zaki, Maha S., Ben-Omran, Tawfeg, Almureikhi, Mariam, Demir, Ercan, Guemez-Gamboa, Alicia, Gregor, Anne, Issa, Mahmoud Y., Appelhof, Bart, Roosing, Susanne, Musaev, Damir, Rosti, Basak, Wirth, Sara, Stanley, Valentina, Baas, Frank, Barr, Francis A., Gleeson, Joseph G.
Format: Artigo
Sprache:Inglês
Veröffentlicht: Elsevier 2017
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Online Zugang: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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