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Loss of the neurodevelopmental Joubert syndrome causing protein, Ahi1, causes motor and muscle development delays independent of central nervous system involvement

Joubert syndrome (JBTS) is a predominantly autosomal recessive neurodevelopmental disorder that presents with characteristic malformations of the cerebellar vermis, superior cerebellar peduncles and midbrain in humans. Accompanying these malformations are a heterogeneous set of clinical symptoms, wh...

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Detaylı Bibliyografya
Yayımlandı:Dev Biol
Asıl Yazarlar: Bourgeois, Justin R., Ferland, Russell J.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 2019
Konular:
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC6445374/
https://ncbi.nlm.nih.gov/pubmed/30695685
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ydbio.2019.01.014
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