Your browser doesn't support javascript.
loading
Gordon Holmes syndrome: finally genotype meets phenotype.
Mehmood, Shahid; Hoggard, Nigel; Hadjivassiliou, Marios.
Afiliación
  • Mehmood S; Academic Department of Neurosciences, Royal Hallamshire Hospital, Sheffield, UK.
  • Hoggard N; Academic Department of Neurosciences, Royal Hallamshire Hospital, Sheffield, UK.
  • Hadjivassiliou M; Academic Department of Neurosciences, Royal Hallamshire Hospital, Sheffield, UK.
Pract Neurol ; 17(6): 476-478, 2017 Dec.
Article en En | MEDLINE | ID: mdl-28972031
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.
Asunto(s)
Palabras clave

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Ataxia Cerebelosa / Hormona Liberadora de Gonadotropina / Hipogonadismo Tipo de estudio: Prognostic_studies Límite: Adult / Humans / Male Idioma: En Revista: Pract Neurol Año: 2017 Tipo del documento: Article Pais de publicación: Reino Unido

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Ataxia Cerebelosa / Hormona Liberadora de Gonadotropina / Hipogonadismo Tipo de estudio: Prognostic_studies Límite: Adult / Humans / Male Idioma: En Revista: Pract Neurol Año: 2017 Tipo del documento: Article Pais de publicación: Reino Unido