about
Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti-Boltshauser syndrome).Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypesJoubert syndrome: congenital cerebellar ataxia with the molar toothA homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium.Infantile and childhood onset PLA2G6-associated neurodegeneration in a large North African cohort.A novel PMCA3 mutation in an ataxic patient with hypomorphic phosphomannomutase 2 (PMM2) heterozygote mutations: Biochemical characterization of the pump defect.Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome.Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects.Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation.A rare case of cerebellar agenesis: a probabilistic Constrained Spherical Deconvolution tractographic study.Erratum to: Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation.Very mild features of dysequilibrium syndrome associated with a novel VLDLR missense mutation.Novel mutations in the ciliopathy-associated gene CPLANE1 (C5orf42) cause OFD syndrome type VI rather than Joubert syndrome
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