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

D De Silva, KA Williamson, KC Dayasiri, N Suraweera, V Quinters, H Abeysekara, J Wanigasinghe, D De Silva, H De Silva

BMC Pediatrics

18: e308