Gordon Holmes syndrome caused by two novel mutations in the PNPLA6 gene.

Locci, Sara; Bianchi, Silvia; Tessa, Alessandra; Santorelli, Filippo Maria; Mignarri, Andrea

Locci, Sara; Bianchi, Silvia; Tessa, Alessandra; Santorelli, Filippo Maria; Mignarri, Andrea.

Afiliación

Locci S; Unit of Neurology and Neurometabolic Disorders, Department of Medicine, Surgery and Neurosciences, University of Siena, Siena, Italy.
Bianchi S; Unit of Neurology and Neurometabolic Disorders, Department of Medicine, Surgery and Neurosciences, University of Siena, Siena, Italy.
Tessa A; Unit of Molecular Medicine, IRCCS Stella Maris, Pisa, Italy.
Santorelli FM; Unit of Molecular Medicine, IRCCS Stella Maris, Pisa, Italy.
Mignarri A; Unit of Neurology and Neurometabolic Disorders, Department of Medicine, Surgery and Neurosciences, University of Siena, Siena, Italy. Electronic address: andrea.mignarri@ao-siena.toscana.it.

Clin Neurol Neurosurg ; 207: 106763, 2021 08.

Article en En | MEDLINE | ID: mdl-34157508

Asunto(s)

Aciltransferasas/genética; Ataxia Cerebelosa/diagnóstico; Ataxia Cerebelosa/genética; Hormona Liberadora de Gonadotropina/deficiencia; Hipogonadismo/diagnóstico; Hipogonadismo/genética; Mutación/genética; Fosfolipasas/genética; Hormona Liberadora de Gonadotropina/genética; Humanos; Masculino; Persona de Mediana Edad

Palabras clave

Brain MRI; Cerebellar ataxia; Gordon Holmes syndrome; Hypogonadotropic hypogonadism; PNPLA6 gene

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Fosfolipasas / Aciltransferasas / Ataxia Cerebelosa / Hormona Liberadora de Gonadotropina / Hipogonadismo / Mutación Tipo de estudio: Prognostic_studies Límite: Humans / Male / Middle aged Idioma: En Revista: Clin Neurol Neurosurg Año: 2021 Tipo del documento: Article País de afiliación: Italia Pais de publicación: Países Bajos

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