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Ataxia and hypogonadotropic hypogonadism with intrafamilial variability caused by RNF216 mutation

Mohammed Alqwaifly ; Saeed Bohlega

Neurology International, 01 June 2016, Vol.8(2) [Periódico revisado por pares]

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  • Título:
    Ataxia and hypogonadotropic hypogonadism with intrafamilial variability caused by RNF216 mutation
  • Autor: Mohammed Alqwaifly ; Saeed Bohlega
  • Assuntos: Cerebellar Ataxia ; Hypogonadotropic Hypogonadism ; Rnf216 ; Gordon Holmes ; Medicine
  • É parte de: Neurology International, 01 June 2016, Vol.8(2)
  • Descrição: Gordon Holmes syndrome (GHS) is a distinct phenotype of autosomal recessive cerebellar ataxia, characterized by ataxia, dementia, reproductive defects and hypogonadism; it has been recently found to be associated with RNF216 mutation. We performed whole-exome sequencing and filtered the resulting...
  • Idioma: Inglês

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