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

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, 4, 5- triphosphate- responsive calcium channel have been identified in 13 patients recently. | 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

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