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

• Главные авторы: Daham De Silva (Автор), Kathleen A. Williamson (Автор), Kavinda Chandimal Dayasiri (Автор), Nayani Suraweera (Автор), Vinushiya Quinters (Автор), Hiranya Abeysekara (Автор), Jithangi Wanigasinghe (Автор), Deepthi De Silva (Автор), Harendra De Silva (Автор)
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• Опубликовано: BMC, 2018-09-01T00:00:00Z.
• Предметы: article
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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,...