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A Homozygous PDE6D Mutation in Joubert Syndrome Impairs Targeting of Farnesylated INPP5E Protein to the Primary Cilium

Archive ouverte | Thomas, Sophie | CCSD

International audience. Joubert syndrome (JS) is characterized by a distinctive cerebellar structural defect, namely the <>. JS is genetically heterogeneous, involving 20 genes identified to date, which are all requ...

Molecular Genetic Analysis of the PLP1 Gene in 38 Families with PLP1-related disorders: Identification and Functional Characterization of 11 Novel PLP1 Mutations.

Archive ouverte | Grossi, Serena | CCSD

International audience. ABSTRACT: BACKGROUND: The breadth of the clinical spectrum underlying Pelizaeus-Merzbacher disease and spastic paraplegia type 2 is due to the extensive allelic heterogeneity in the X-linked ...

Distinguishing the four genetic causes of Jouberts syndrome-related disorders.

Archive ouverte | Valente, Enza Maria | CCSD

International audience. Jouberts syndrome-related disorders are a group of recessively inherited conditions showing cerebellar vermis hypoplasia and the molar tooth sign of the midbrain-hindbrain junction. Recent an...

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