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Gordon Holmes syndrome: finally genotype meets phenotype

Abstract

We describe a patient with Gordon Holmes syndrome presenting with a combination of hypogonadotropic hypogonadism, ataxia and progressive cognitive decline, with distinct MRI brain findings. Recent genetic advances allowed the identification of the genetic defects responsible for this rather unusual combination of endocrine and neurological involvement.

  • gordon holmes syndrome
  • cerebellar ataxia
  • hypogonadotropic hypogonadism
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  • Editors’ commentary
    Phil E M Smith Geraint N Fuller