Invest Ophthalmol Vis Sci. 2007 Nov;48(11):5221-8.
Gelfman CM, Vogel P, Issa TM, Turner CA, Lee WS, Kornfeld S, Rice DS.
In this paper, the authors describe a mouse model for mucolipidosis II. The mice have severe retinal degeneration, in addition to being smaller, having elevated levels of serum lysosomal enzymes, exhibiting cartilage defect and cytoplasmic alterations in secretory cells of several exocrine glands.
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Philippe Campeau, MD
Resident in Medical Genetics at McGill University
OMMBID Blog Administrator