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Article

Heterogeneity of Marinesco-Sjögren syndrome: report of two cases.

Pediatric neurology - 1 Dec 2011

Yiş Uluç, Cirak Sebahattin, Hız Semra, Cakmakçı Handan, Dirik Eray

Abstract excerpt

Marinesco-Sjögren syndrome is an autosomal recessive, multiorgan disorder with cardinal features of cerebellar ataxia, congenital or early childhood cataracts, psychomotor retardation, myopathy, and short stature. Mutations in the SIL1 gene on chromosome 5q31 were demonstrated to cause Marinesco-Sjögren syndrome. We describe two Turkish patients with clinical characteristics of Marinesco-Sjögren syndrome, but...

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Source

Identifiers

PMID: 22115007
DOI: 10.1016/j.pediatrneurol.2011.08.015

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.

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

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