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Analysis of human samples reveals impaired SHH-dependent cerebellar development in Joubert syndrome/Meckel syndrome

Joubert syndrome (JS) and Meckel syndrome (MKS) are pleiotropic ciliopathies characterized by severe defects of the cerebellar vermis, ranging from hypoplasia to aplasia. Interestingly, ciliary conditional mutant mice have a hypoplastic cerebellum in which the proliferation of cerebellar granule cel...

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Detalhes bibliográficos
Main Authors: Aguilar, Andrea, Meunier, Alice, Strehl, Laetitia, Martinovic, Jelena, Bonniere, Maryse, Attie-Bitach, Tania, Encha-Razavi, Féréchté, Spassky, Nathalie
Formato: Artigo
Idioma:Inglês
Publicado em: National Academy of Sciences 2012
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3479472/
https://ncbi.nlm.nih.gov/pubmed/23027964
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1201408109
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