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

被引：0
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作者：
Daham De Silva
Kathleen A. Williamson
Kavinda Chandimal Dayasiri
Nayani Suraweera
Vinushiya Quinters
Hiranya Abeysekara
Jithangi Wanigasinghe
Deepthi De Silva
Harendra De Silva
机构：
[1] University of Colombo,Department of Paediatrics, Faculty of Medicine
[2] University of Edinburgh,MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine
[3] Lady Ridgeway Hospital for Children,Professorial Paediatric Unit
[4] Lady Ridgeway Hospital for Children,Department of Ophthalmology
[5] University of Kelaniya,Department of Physiology, Faculty of Medicine
来源：
BMC Pediatrics | / 18卷
关键词：
Gillespie syndrome; Partial aniridia; Cerebellar hypoplasia; ITPR1 gene;
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