Gillespie syndrome in a South Asian child: a case report with confirmation of a heterozygous mutation of the ITPR1 gene and review of the clinical and molecular features

• Main Authors: Daham De Silva (Author), Kathleen A. Williamson (Author), Kavinda Chandimal Dayasiri (Author), Nayani Suraweera (Author), Vinushiya Quinters (Author), Hiranya Abeysekara (Author), Jithangi Wanigasinghe (Author), Deepthi De Silva (Author), Harendra De Silva (Author)
• Formato: Libro
• Publicado: BMC, 2018-09-01T00:00:00Z.
• Subjects: article
• Acceso en liña: Connect to this object online.

Abstract Background Gillespie syndrome is a rare, congenital, neurological disorder characterized by the association of partial bilateral aniridia, non-progressive cerebellar ataxia and intellectual disability. Homozygous and heterozygous pathogenic variants of the ITPR1 gene encoding an inositol 1,...