Ataxia and hypogonadotropic hypogonadism with intrafamilial variability caused by RNF216 mutation

• Main Authors: Mohammed Alqwaifly (Author), Saeed Bohlega (Author)
• Formato: Libro
• Publicado: MDPI AG, 2016-06-01T00:00:00Z.
• Subjects: article
• Acceso en liña: Connect to this object online.

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 <em>RNF216</em> mutation. We performed whole-exome sequencing and filt...