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, Daham; Williamson, Kathleen A; Dayasiri, Kavinda Chandimal; Suraweera, Nayani; Quinters, Vinushiya; Abeysekara, Hiranya; Wanigasinghe, Jithangi; De Silva, Deepthi; De Silva, Harendra

De Silva, Daham; Williamson, Kathleen A; Dayasiri, Kavinda Chandimal; Suraweera, Nayani; Quinters, Vinushiya; Abeysekara, Hiranya; Wanigasinghe, Jithangi; De Silva, Deepthi; De Silva, Harendra.

Afiliación

De Silva D; Department of Paediatrics, Faculty of Medicine, University of Colombo, Colombo, 8, Sri Lanka.
Williamson KA; MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK.
Dayasiri KC; Professorial Paediatric Unit, Lady Ridgeway Hospital for Children, Colombo, 08, Sri Lanka.
Suraweera N; Professorial Paediatric Unit, Lady Ridgeway Hospital for Children, Colombo, 08, Sri Lanka.
Quinters V; Professorial Paediatric Unit, Lady Ridgeway Hospital for Children, Colombo, 08, Sri Lanka.
Abeysekara H; Department of Ophthalmology, Lady Ridgeway Hospital for Children, Colombo, 08, Sri Lanka.
Wanigasinghe J; Department of Paediatrics, Faculty of Medicine, University of Colombo, Colombo, 8, Sri Lanka.
De Silva D; Department of Physiology, Faculty of Medicine, University of Kelaniya, Kelaniya, Sri Lanka. deepthid@kln.ac.lk.
De Silva H; Department of Paediatrics, Faculty of Medicine, University of Colombo, Colombo, 8, Sri Lanka.

BMC Pediatr ; 18(1): 308, 2018 09 24.

Article en En | MEDLINE | ID: mdl-30249237

Asunto(s)

Aniridia/genética; Ataxia Cerebelosa/genética; Heterocigoto; Receptores de Inositol 1,4,5-Trifosfato/genética; Discapacidad Intelectual/genética; Mutación; Aniridia/diagnóstico; Aniridia/diagnóstico por imagen; Encéfalo/diagnóstico por imagen; Ataxia Cerebelosa/diagnóstico; Ataxia Cerebelosa/diagnóstico por imagen; Niño; Femenino; Humanos; Discapacidad Intelectual/diagnóstico; Discapacidad Intelectual/diagnóstico por imagen; Imagen por Resonancia Magnética; Sri Lanka

Palabras clave

Cerebellar hypoplasia; Gillespie syndrome; ITPR1 gene; Partial aniridia

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Aniridia / Ataxia Cerebelosa / Receptores de Inositol 1,4,5-Trifosfato / Heterocigoto / Discapacidad Intelectual / Mutación Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Child / Female / Humans País/Región como asunto: Asia Idioma: En Revista: BMC Pediatr Asunto de la revista: PEDIATRIA Año: 2018 Tipo del documento: Article País de afiliación: Sri Lanka

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