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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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Formato: | Online Artículo Texto |
Lenguaje: | English |
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IOS Press
2019
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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 |