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Article

Mucolipidosis IV: report of a case with ocular restricted phenotype caused by leaky splice mutation.

American journal of ophthalmology - 1 Apr 2007

Dobrovolny Robert, Liskova Petra, Ledvinova Jana, Poupetova Helena, Asfaw Befekadu, Filipec Martin, Jirsova Katerina, Kraus Josef, Elleder Milan

Abstract excerpt

PURPOSE: To confirm and define a molecular basis for a case of mucolipidosis type IV (ML IV) with an extremely atypical phenotype pattern. DESIGN: Observational case report of a patient with ML IV with disease progression restricted to ocular symptoms. METHODS: Complete ophthalmologic and neurologic examination. Ultrastructural examination of white blood cells, skin, conjunctiva, and corneal epithelium. The...

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Source

Identifiers

PMID: 17239335
DOI: 10.1016/j.ajo.2006.11.049

Genes

MCOLN1

Variants

Provenance

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