The molecular genetics of Joubert syndrome and related ciliopathies: The challenges of genetic and phenotypic heterogeneity

Joubert syndrome (JS; MIM PS213300) is a rare, typically autosomal recessive disorder characterized by cerebellar vermis hypoplasia and a distinctive malformation of the cerebellum and brainstem identified as the “molar tooth sign” on brain MRI. Other universal features include hypotonia with later...

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Detalles Bibliográficos
Autor principal: Parisi, Melissa A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: IOS Press 2019
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6864416/
https://www.ncbi.nlm.nih.gov/pubmed/31763177
http://dx.doi.org/10.3233/TRD-190041

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