Browsing Medicine by Subject "Gillespie syndrome"

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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

de Silva, D.; Williamson, K.A.; Dayasiri, K.C.; Suraweera, N.; Quinters, V.; Abeysekara, H.; Wanigasinghe, J.; de Silva, D.; de Silva, H. (BioMed Central, 2018)

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 ...

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