Gordon Holmes syndrome: finally genotype meets phenotype.
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.
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