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

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, 4, 5- t...

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Detalles Bibliográficos
Autores principales: De Silva, Daham, Williamson, Kathleen A., Dayasiri, Kavinda Chandimal, Suraweera, Nayani, Quinters, Vinushiya, Abeysekara, Hiranya, Wanigasinghe, Jithangi, De Silva, Deepthi, De Silva, Harendra
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6154888/
https://www.ncbi.nlm.nih.gov/pubmed/30249237
http://dx.doi.org/10.1186/s12887-018-1286-5

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