Marinesco–Sjögren syndrome

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A disorder characterized by cerebellar ataxia, congenital cataracts, and retarded somatic and mental maturation; caused by disruption of the SIL1 gene that encodes a protein of the endoplasmic reticulum (ER) that is a nucleotide exchange factor for the chaperone (BiP) involved in translocation of secreted proteins into the ER lumen.

Subjects: Medicine and Health.

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