A novel phenotype associated with GRN mutations: Spastic ataxia
Objective: We report a patient with Spastic Ataxia caused by new homozygous mutations in the GRN gene. Background: The gene GRN located on chromosome 17…A rare genetic transcriptomopathy syndrome involving TAF1 leading to insights into more common neurologic disorders, including X-linked dystonia-parkinsonism (XDP)
Objective: We set out to discover the genetic basis of an X-linked genetic syndrome presenting with global developmental delay, intellectual disability, characteristic facial dysmorphology, generalized…
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