Artículo

Gordon Holmes Syndrome Caused by RNF216 Novel Mutation in 2 Argentinean Siblings

Calandra, Cristian R.; Mocarbel, Yamile; Vishnopolska, Sebastián AlexisIcon ; Toneguzzo, Vanessa; Oliveri, Jaen Natalia; Cazado, Enrique Carlos; Biagioli, German; Turjanski, AdrianIcon ; Marti, Marcelo AdrianIcon
Fecha de publicación: 03/2019
Editorial: Wiley Blackwell Publishing, Inc
Revista: Movement Disorders Clinical Practice
ISSN: 2330-1619
Idioma: Inglés
Tipo de recurso: Artículo publicado
Clasificación temática:

Resumen

Gordon Holmes syndrome (GHS) is the clinical association of ataxia and hypogonadism1 frequently encountered in patients with autosomal-recessive cerebellar ataxias. Mutations in genes, such as RNF216, OTUD4, STUB1, PNPLA6, and POL- R3A/3B/1C, are associated with ataxia and hypogonadism,2–6 but the patient’s observed phenotypes are generally wider than expected. Here, we report the case of 2 Argentinean siblings with GHS caused by a novel homozygous mutation in the RNF216 gene.
Palabras clave: Exoma , bioinformatica , diagnostico , software
 
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info:eu-repo/semantics/restrictedAccess Excepto donde se diga explícitamente, este item se publica bajo la siguiente descripción: Creative Commons Attribution-NonCommercial-ShareAlike 2.5 Unported (CC BY-NC-SA 2.5)
Identificadores
URI: http://hdl.handle.net/11336/123556
DOI: http://dx.doi.org/doi: 10.1002/mdc3.12721
URL: https://movementdisorders.onlinelibrary.wiley.com/doi/full/10.1002/mdc3.12721
Colecciones
Articulos(IQUIBICEN)
Articulos de INSTITUTO DE QUIMICA BIOLOGICA DE LA FACULTAD DE CS. EXACTAS Y NATURALES
Citación
Calandra, Cristian R.; Mocarbel, Yamile; Vishnopolska, Sebastián Alexis; Toneguzzo, Vanessa; Oliveri, Jaen Natalia; et al.; Gordon Holmes Syndrome Caused by RNF216 Novel Mutation in 2 Argentinean Siblings; Wiley Blackwell Publishing, Inc; Movement Disorders Clinical Practice; 6; 3; 3-2019; 259-262
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