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Article

Marinesco-Sjögren Syndrome in an Emirati Child with a Novel Mutation in SIL1 Affecting the 5' Untranslated Region.

Medical principles and practice : international journal of the Kuwait University, Health Science Centre - 1 Jan 2016

Nair Pratibha, Hamzeh Abdul Rezzak, Mohamed Madiha, Tawfiq Nafisa, Al-Ali Mahmoud Taleb, Bastaki Fatma

Abstract excerpt

OBJECTIVE: The aim of this study was to report clinical and molecular findings in an Emirati child with Marinesco-Sjögren syndrome born to consanguineous parents. CLINICAL PRESENTATION AND INTERVENTION: The child presented with developmental delay, ataxia, bilateral cataracts, and dysmorphic craniofacial features, along with cerebellar atrophy. Sequencing of the SIL1 gene revealed a novel homozygous large indel...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 27544240
DOI: 10.1159/000449225
PMCID: PMC5588509

Genes

SIL1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

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Marinesco-Sjögren Syndrome in an Emirati Child with a Novel Mutation in SIL1 Affecting the 5' Untranslated Region.PMID 27544240Read ↗

Loss of function mutations in SIL1 cause Marinesco-Sjögren syndrome.Semantic proximity Read ↗

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C-terminal mutations destabilize SIL1/BAP and can cause Marinesco-Sjögren syndrome.Semantic proximity Read ↗

Novel SIL1 mutations and exclusion of functional candidate genes in Marinesco-Sjögren syndrome.Semantic proximity Read ↗

Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy.Semantic proximity Read ↗

Heterogeneity of Marinesco-Sjögren syndrome: report of two cases.Semantic proximity Read ↗

Novel mutations in the SIL1 gene in a Japanese pedigree with the Marinesco-Sjögren syndrome.Semantic proximity Read ↗

The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone.Semantic proximity Read ↗

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Characterization of Zebrafish Models of Marinesco-Sjögren Syndrome.Semantic proximity Read ↗

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